ClinVar Miner

Variants with conflicting interpretations "benign" and "pathogenic"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:

Total variants with conflicting interpretations: 530

HGVS dbSNP gnomAD frequency
NM_016335.6(PRODH):c.1562= (p.Arg521=) rs450046 0.99729
NM_000130.5(F5):c.1601= (p.Arg534=) rs6025 0.98238
NM_016511.4(CLEC1A):c.77G>C (p.Gly26Ala) rs2306894 0.85307
NM_001308093.3(GATA4):c.617-113T>C rs3735819 0.80128
NM_020975.6(RET):c.73+9277T>C rs2435357 0.79636
NM_001994.3(F13B):c.344G>A (p.Arg115His) rs6003 0.75658
NM_001173990.3(TMEM216):c.*558G>A rs7607 0.73129
NM_174936.4(PCSK9):c.-861G>A rs2479409 0.65476
NM_006005.3(WFS1):c.713-1075C>G rs6446482 0.62564
NM_000660.7(TGFB1):c.29C>T (p.Pro10Leu) rs1800470 0.60129
NM_000892.5(KLKB1):c.428G>A (p.Ser143Asn) rs3733402 0.58780
NM_001002255.2(SUMO4):c.163G>A (p.Val55Met) rs237025 0.57192
NM_001072.4(UGT1A6):c.862-10021T>G rs4124874 0.55614
NM_199161.5(SAA1):c.209C>T (p.Ala70Val) rs1136743 0.54798
NM_000796.6(DRD3):c.25G>A (p.Gly9Ser) rs6280 0.54577
NM_001136219.3(FCGR2A):c.500A>G (p.His167Arg) rs1801274 0.50935
NM_000069.2(CACNA1S):c.-476G>A rs2281845 0.50680
NM_000579.4(CCR5):c.-301+246A>G rs1799987 0.49151
NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val) rs1055138 0.45965
NM_002454.3(MTRR):c.66A>G (p.Ile22Met) rs1801394 0.44938
NM_005223.4(DNASE1):c.731G>A (p.Arg244Gln) rs1053874 0.43995
NM_002075.4(GNB3):c.825C>T (p.Ser275=) rs5443 0.43936
NM_030803.7(ATG16L1):c.898A>G (p.Thr300Ala) rs2241880 0.43552
NM_003263.4(TLR1):c.743A>G (p.Asn248Ser) rs4833095 0.43490
NM_002087.4(GRN):c.*78C>T rs5848 0.40636
NM_000186.4(CFH):c.184G>A (p.Val62Ile) rs800292 0.40446
NM_001308093.3(GATA4):c.1150-107A>G rs745379 0.38644
NM_053056.3(CCND1):c.723G>A (p.Pro241=) rs9344 0.38311
NM_005956.4(MTHFD1):c.1958G>A (p.Arg653Gln) rs2236225 0.38175
NM_001104.4(ACTN3):c.1729C>T (p.Arg577Ter) rs1815739 0.36260
NM_001742.4(CALCR):c.1340T>C (p.Leu447Pro) rs1801197 0.35816
NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu) rs1169288 0.35489
NM_001308093.3(GATA4):c.*1256A>T rs12458 0.34439
NC_000015.10:g.58431740G>A rs2070895 0.33491
NM_033004.4(NLRP1):c.464T>A (p.Leu155His) rs12150220 0.33261
NM_000311.5(PRNP):c.385A>G (p.Met129Val) rs1799990 0.32909
NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln) rs1044498 0.32168
NM_001080467.3(MYO5B):c.3163_3165dup (p.Leu1055dup) rs397841722 0.31640
NM_002392.6(MDM2):c.14+309T>G rs2279744 0.30651
NC_000010.11:g.49539493G>C rs3793784 0.29754
NM_005551.5(KLK2):c.748C>T (p.Arg250Trp) rs198977 0.29720
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941 0.29115
NM_000069.3(CACNA1S):c.258+57G>A rs1325310 0.28632
NM_005432.4(XRCC3):c.562-14A>G rs1799796 0.28148
NM_006883.2(SHOX):c.-507G>C rs111549748 0.28055
NM_000140.5(FECH):c.68-23C>T rs2269219 0.27629
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133 0.27446
NM_173851.3(SLC30A8):c.973C>T (p.Arg325Trp) rs13266634 0.26559
NM_213647.3(FGFR4):c.1162G>A (p.Gly388Arg) rs351855 0.26099
NM_000743.5(CHRNA3):c.645C>T (p.Tyr215=) rs1051730 0.25972
NM_003126.4(SPTA1):c.5572C>G (p.Leu1858Val) rs3737515 0.25425
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg) rs1805124 0.24768
NM_016358.3(IRX4):c.90A>C (p.Gly30=) rs2232374 0.24160
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24046
NM_001099667.3(ARMS2):c.205G>T (p.Ala69Ser) rs10490924 0.23418
NM_198437.3(AURKA):c.91T>A (p.Phe31Ile) rs2273535 0.23195
NM_001171.6(ABCC6):c.3803G>A (p.Arg1268Gln) rs2238472 0.22903
NM_006269.2(RP1):c.5008G>A (p.Ala1670Thr) rs446227 0.21985
NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) rs738409 0.21657
NM_020975.6(RET):c.135= (p.Ala45=) rs1800858 0.21483
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259 0.21481
NM_000254.3(MTR):c.2756A>G (p.Asp919Gly) rs1805087 0.21318
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser) rs1799958 0.20997
NM_000685.5(AGTR1):c.*86A>C rs5186 0.20976
NM_001145805.2(IRGM):c.313C>T (p.Leu105=) rs10065172 0.20755
NM_000099.4(CST3):c.73G>A (p.Ala25Thr) rs1064039 0.20062
NM_002658.6(PLAU):c.422= (p.Leu141=) rs2227564 0.18805
NM_000055.2(BCHE):c.1699G>A (p.Ala567Thr) rs1803274 0.18493
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.17677
NM_152709.5(STOX1):c.1824A>C (p.Glu608Asp) rs10509305 0.17379
NM_001011551.3(C1GALT1C1):c.393T>A (p.Asp131Glu) rs17261572 0.16287
NM_002711.4(PPP1R3A):c.2713G>T (p.Asp905Tyr) rs1799999 0.16138
NM_000041.4(APOE):c.388T>C (p.Cys130Arg) rs429358 0.16059
NM_014236.4(GNPAT):c.1556A>G (p.Asp519Gly) rs11558492 0.15945
NM_001308093.3(GATA4):c.*852G>A rs804290 0.15840
NM_002843.4(PTPRJ):c.827A>C (p.Gln276Pro) rs1566734 0.15145
NM_014208.3(DSPP):c.202A>T (p.Arg68Trp) rs36094464 0.14530
NC_000003.12:g.124055231T>G rs9289231 0.14244
NM_000064.4(C3):c.304C>G (p.Arg102Gly) rs2230199 0.14187
NM_018006.5(TRMU):c.28G>T (p.Ala10Ser) rs11090865 0.13476
NM_016358.3(IRX4):c.1203G>A (p.Ala401=) rs1689717 0.12779
NM_002875.5(RAD51):c.-98G>C rs1801320 0.12401
NM_000354.5(SERPINA7):c.909G>T (p.Leu303Phe) rs1804495 0.12108
NM_001378373.1(MBL2):c.161G>A (p.Gly54Asp) rs1800450 0.11335
NM_001308093.3(GATA4):c.617-61G>C rs10503425 0.10765
NC_000011.10:g.5225365C>G rs12788013 0.10602
NM_001141945.3(ACTA2):c.-24+1440C>T rs2234767 0.10602
NM_000113.3(TOR1A):c.646G>C (p.Asp216His) rs1801968 0.10301
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000435.3(NOTCH3):c.3058G>C (p.Ala1020Pro) rs35769976 0.09838
NM_005142.3(CBLIF):c.68A>G (p.Gln23Arg) rs35211634 0.09596
NM_001308093.3(GATA4):c.1000+200G>A rs3729851 0.09324
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter) rs17602729 0.08701
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000041.2(APOE):c.526C>T (p.Arg176Cys) rs7412 0.07986
NM_000602.5(SERPINE1):c.43G>A (p.Ala15Thr) rs6092 0.07985
NM_001395413.1(POR):c.6A>G (p.Gly2=) rs10262966 0.07713
NM_001159387.2(B4GALNT2):c.954+5G>A rs72835417 0.07640
NM_001378373.1(MBL2):c.170G>A (p.Gly57Glu) rs1800451 0.07628
NM_017672.6(TRPM7):c.4445C>T (p.Thr1482Ile) rs8042919 0.07502
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07384
NM_016362.5(GHRL):c.214C>A (p.Leu72Met) rs696217 0.07295
NM_022336.4(EDAR):c.1109T>C (p.Val370Ala) rs3827760 0.07017
NM_016335.6(PRODH):c.1292G>A (p.Arg431His) rs2904552 0.06735
NM_001379500.1(COL18A1):c.3778G>A (p.Asp1260Asn) rs12483377 0.06693
NM_015967.8(PTPN22):c.1858= (p.Trp620=) rs2476601 0.06614
NM_000616.5(CD4):c.793C>T (p.Arg265Trp) rs28919570 0.06389
NC_000008.11:g.11573132C>T rs61199332 0.06287
NM_000031.6(ALAD):c.177G>C (p.Lys59Asn) rs1800435 0.06273
NM_003661.4(APOL1):c.1152T>G (p.Ile384Met) rs60910145 0.06255
NM_001002294.3(FMO3):c.769G>A (p.Val257Met) rs1736557 0.06174
NM_000135.4(FANCA):c.3982A>G (p.Thr1328Ala) rs9282681 0.05989
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys) rs11258194 0.05969
NM_000579.4(CCR5):c.-229C>T rs41469351 0.05865
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe) rs17233497 0.05303
NM_000482.4(APOA4):c.1140G>T (p.Gln380His) rs5110 0.05181
NM_000325.6(PITX2):c.*454C>T rs6533526 0.05143
NM_000487.6(ARSA):c.*96A>G rs6151429 0.05120
NM_144687.4(NLRP12):c.1206C>G (p.Phe402Leu) rs34971363 0.05059
NM_197947.3(CLEC7A):c.714T>G (p.Tyr238Ter) rs16910526 0.04986
NM_000342.4(SLC4A1):c.166A>G (p.Lys56Glu) rs5036 0.04977
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071 0.04969
NM_001378373.1(MBL2):c.154C>T (p.Arg52Cys) rs5030737 0.04964
NM_000016.6(ACADM):c.351A>C (p.Thr117=) rs74090726 0.04935
NM_014049.5(ACAD9):c.-44_-41dup rs387906242 0.04863
NM_002386.4(MC1R):c.451C>T (p.Arg151Cys) rs1805007 0.04832
NM_002769.5(PRSS1):c.161A>G (p.Asn54Ser) rs144422014 0.04776
NM_001360016.2(G6PD):c.486-60C>G rs2515904 0.04673
NM_002386.4(MC1R):c.478C>T (p.Arg160Trp) rs1805008 0.04620
NM_005105.5(RBM8A):c.*6C>G rs12079762 0.04454
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309 0.04394
NM_001195129.2(PRSS56):c.1795C>G (p.Pro599Ala) rs61744404 0.04318
NM_001042475.3(CEP85L):c.1020+17269T>G rs77186188 0.04176
NM_000022.2(ADA):c.22G>A (p.Asp8Asn) rs73598374 0.04175
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466 0.04034
NM_003356.4(UCP3):c.304G>A (p.Val102Ile) rs2229707 0.03989
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03738
NM_002283.4(KRT85):c.233G>A (p.Arg78His) rs61630004 0.03613
NM_001308.3(CPN1):c.533G>A (p.Gly178Asp) rs61751507 0.03433
NM_003126.4(SPTA1):c.2909C>A (p.Ala970Asp) rs35948326 0.03419
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp) rs1800556 0.03280
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys) rs35520756 0.03206
NM_000439.5(PCSK1):c.661A>G (p.Asn221Asp) rs6232 0.03201
NM_001453.3(FOXC1):c.889C>T (p.Pro297Ser) rs79691946 0.03108
NM_004629.2(FANCG):c.890C>T (p.Thr297Ile) rs2237857 0.02972
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581 0.02951
NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg) rs35782247 0.02918
NM_001138.2(AGRP):c.199G>A (p.Ala67Thr) rs5030980 0.02882
NM_003331.5(TYK2):c.3310C>G (p.Pro1104Ala) rs34536443 0.02850
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln) rs61747728 0.02796
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val) rs35947132 0.02791
NM_174936.4(PCSK9):c.1327G>A (p.Ala443Thr) rs28362263 0.02744
NM_006883.2(SHOX):c.-512C>A rs113313554 0.02703
NM_000067.3(CA2):c.754A>G (p.Asn252Asp) rs2228063 0.02634
NM_000420.3(KEL):c.1790T>C (p.Leu597Pro) rs8176038 0.02529
NM_005555.4(KRT6B):c.1495G>A (p.Gly499Ser) rs61746355 0.02504
NM_001388492.1(HTT):c.3779C>T (p.Thr1260Met) rs34315806 0.02416
NM_004132.5(HABP2):c.1601G>A (p.Gly534Glu) rs7080536 0.02322
NM_173076.3(ABCA12):c.7093G>A (p.Asp2365Asn) rs726070 0.02279
NM_000096.4(CP):c.1652C>T (p.Thr551Ile) rs61733458 0.02278
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962 0.02208
NM_012099.3(POLR1G):c.844A>G (p.Thr282Ala) rs3212989 0.02148
NM_000137.4(FAH):c.1021C>T (p.Arg341Trp) rs11555096 0.02131
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_001040108.2(MLH3):c.2221G>T (p.Val741Phe) rs28756990 0.02049
NM_000348.4(SRD5A2):c.145G>A (p.Ala49Thr) rs9282858 0.01999
NM_000237.3(LPL):c.106G>A (p.Asp36Asn) rs1801177 0.01951
NM_000949.7(PRLR):c.508A>C (p.Ile170Leu) rs72478580 0.01896
NM_022725.4(FANCF):c.825G>A (p.Leu275=) rs36045913 0.01819
NM_000500.9(CYP21A2):c.*13G>A rs6447 0.01770
NM_016335.6(PRODH):c.1357C>T (p.Arg453Cys) rs3970559 0.01765
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
NM_016616.4(NME8):c.271-27C>T rs117149381 0.01701
NG_012820.2(ANK1):g.104072G>A rs183894680 0.01664
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558 0.01651
NM_000187.4(HGD):c.1221G>A (p.Ala407=) rs146206905 0.01639
NM_001174096.2(ZEB1):c.233A>C (p.Asn78Thr) rs80194531 0.01629
NM_152750.5(CDHR3):c.1653+3G>A rs117797654 0.01627
NM_004252.5(NHERF1):c.328C>G (p.Leu110Val) rs35910969 0.01619
NM_015102.5(NPHP4):c.2542C>T (p.Arg848Trp) rs17472401 0.01606
NM_005912.3(MC4R):c.307G>A (p.Val103Ile) rs2229616 0.01559
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01532
NM_000520.6(HEXA):c.672+30T>G rs117160567 0.01494
NM_000202.8(IDS):c.641C>T (p.Thr214Met) rs61736892 0.01492
NM_001715.3(BLK):c.211G>A (p.Ala71Thr) rs55758736 0.01485
NM_000465.4(BARD1):c.1670G>C (p.Cys557Ser) rs28997576 0.01443
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129 0.01390
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154 0.01316
NM_000372.5(TYR):c.1185-6208A>G rs147546939 0.01270
NM_003102.4(SOD3):c.691C>G (p.Arg231Gly) rs1799895 0.01270
NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu) rs11591147 0.01227
NM_003597.5(KLF11):c.659C>T (p.Thr220Met) rs34336420 0.01221
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584 0.01206
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031 0.01150
NM_000359.3(TGM1):c.1552G>A (p.Val518Met) rs35312232 0.01146
UGT1A1*6 rs4148323 0.01140
NM_016233.2(PADI3):c.856A>G (p.Thr286Ala) rs139426141 0.01139
NM_002381.5(MATN3):c.908C>T (p.Thr303Met) rs77245812 0.01128
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn) rs5352 0.01109
NM_172166.4(MSH5):c.1051C>G (p.Arg351Gly) rs28399976 0.01049
NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn) rs1800555 0.01028
NM_006269.2(RP1):c.1118C>T (p.Thr373Ile) rs77775126 0.01007
NM_032737.4(LMNB2):c.704G>A (p.Arg235Gln) rs121912497 0.00981
NM_000500.9(CYP21A2):c.188A>T (p.His63Leu) rs9378252 0.00964
NM_001374353.1(GLI2):c.4507G>A (p.Asp1503Asn) rs114814747 0.00964
NM_001148.6(ANK2):c.11218C>A (p.Leu3740Ile) rs35530544 0.00961
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala) rs58238559 0.00914
NM_000171.4(GLRA1):c.1108G>A (p.Gly370Ser) rs116474260 0.00908
NM_001039569.2(AP1S3):c.11T>G (p.Phe4Cys) rs116107386 0.00898
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln) rs17885240 0.00863
NM_017570.5(OPLAH):c.3265G>A (p.Val1089Ile) rs185836803 0.00843
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) rs121908147 0.00835
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn) rs115311625 0.00829
NM_015627.3(LDLRAP1):c.653C>T (p.Thr218Ile) rs114583297 0.00817
NM_000483.5(APOC2):c.229A>C (p.Lys77Gln) rs5126 0.00784
NM_153766.3(KCNJ1):c.1013T>C (p.Met338Thr) rs59172778 0.00742
NM_004628.5(XPC):c.1001C>A (p.Pro334His) rs74737358 0.00740
NM_001379610.1(SPINK1):c.56-37T>C rs17107318 0.00736
NM_000384.3(APOB):c.3337G>C (p.Asp1113His) rs12713844 0.00735
NM_001039569.2(AP1S3):c.97C>T (p.Arg33Trp) rs138292988 0.00726
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu) rs2229137 0.00715
NM_001099857.5(IKBKG):c.337G>A (p.Asp113Asn) rs179363896 0.00715
NM_002273.4(KRT8):c.160T>C (p.Tyr54His) rs57749775 0.00715
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_005148.4(UNC119):c.65G>T (p.Gly22Val) rs199714731 0.00691
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330 0.00674
NM_000035.4(ALDOB):c.-214G>A rs185972191 0.00640
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799 0.00640
NM_016233.2(PADI3):c.881C>T (p.Ala294Val) rs144080386 0.00620
NM_016239.4(MYO15A):c.6614C>T (p.Thr2205Ile) rs121908970 0.00599
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) rs45575636 0.00598
NM_022173.4(TIA1):c.1070A>G (p.Asn357Ser) rs116621885 0.00589
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166 0.00570
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg) rs28940884 0.00568
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141 0.00567
NM_002386.4(MC1R):c.252C>A (p.Asp84Glu) rs1805006 0.00539
NM_014946.4(SPAST):c.131C>T (p.Ser44Leu) rs121908515 0.00501
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) rs121908954 0.00491
NM_001193313.2(SUGCT):c.985C>T (p.Arg329Trp) rs137852860 0.00490
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg) rs61738394 0.00489
NM_174936.4(PCSK9):c.1274A>G (p.Asn425Ser) rs28362261 0.00485
NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser) rs1801710 0.00475
NM_000110.4(DPYD):c.1905+1G>A rs3918290 0.00474
NM_172201.2(KCNE2):c.25C>G (p.Gln9Glu) rs16991652 0.00468
NM_016335.6(PRODH):c.865T>A (p.Leu289Met) rs137852934 0.00464
NM_017721.5(CC2D1A):c.1739C>T (p.Thr580Ile) rs202057391 0.00464
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys) rs35731153 0.00463
NR_001566.3(TERC):n.228G>A rs141686314 0.00451
NM_001377.3(DYNC2H1):c.3097-4A>G rs368802969 0.00442
NM_024301.5(FKRP):c.235G>A (p.Val79Met) rs104894683 0.00435
NM_000359.3(TGM1):c.125C>A (p.Ser42Tyr) rs41295338 0.00428
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167 0.00417
NM_001715.3(BLK):c.*338T>G rs1042695 0.00411
NM_182914.3(SYNE2):c.18632C>T (p.Thr6211Met) rs36215895 0.00411
NM_174936.4(PCSK9):c.1856A>C (p.Gln619Pro) rs28362277 0.00409
NM_001106.4(ACVR2B):c.119G>A (p.Arg40His) rs121434437 0.00398
NM_014625.4(NPHS2):c.59C>T (p.Pro20Leu) rs74315344 0.00398
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser) rs28940272 0.00396
NM_006432.5(NPC2):c.441+1G>A rs140130028 0.00393
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938 0.00383
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_007272.3(CTRC):c.760C>T (p.Arg254Trp) rs121909293 0.00374
NM_005267.5(GJA8):c.741T>G (p.Ile247Met) rs80358202 0.00365
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile) rs34924609 0.00356
NM_001453.3(FOXC1):c.*734A>T rs35717904 0.00356
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser) rs25409 0.00354
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu) rs199476099 0.00351
NM_004252.5(NHERF1):c.673G>A (p.Glu225Lys) rs119486097 0.00351
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp) rs17227403 0.00349
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00346
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly) rs121909046 0.00335
NM_000110.4(DPYD):c.2846A>T (p.Asp949Val) rs67376798 0.00334
NM_000313.4(PROS1):c.1528G>A (p.Val510Met) rs138925964 0.00331
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278 0.00318
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) rs34094720 0.00316
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309 0.00312
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile) rs187043152 0.00306
NM_022336.4(EDAR):c.319A>G (p.Met107Val) rs61761321 0.00302
NM_020361.5(CPA6):c.809C>T (p.Ala270Val) rs114402678 0.00300
NM_001371596.2(MFSD8):c.1006G>C (p.Glu336Gln) rs150418024 0.00299
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657 0.00288
NM_000342.4(SLC4A1):c.2561C>T (p.Pro854Leu) rs2285644 0.00284
NM_004082.5(DCTN1):c.3746C>T (p.Thr1249Ile) rs72466496 0.00284
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00283
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344 0.00283
NM_000260.4(MYO7A):c.905G>A (p.Arg302His) rs41298135 0.00281
NM_000939.4(POMC):c.706C>G (p.Arg236Gly) rs28932472 0.00279
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val) rs72552293 0.00277
NM_000514.4(GDNF):c.277C>T (p.Arg93Trp) rs36119840 0.00272
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys) rs6161 0.00262
NM_174936.4(PCSK9):c.2037C>A (p.Cys679Ter) rs28362286 0.00262
NM_000384.3(APOB):c.10780T>C (p.Trp3594Arg) rs61744288 0.00256
NM_174936.4(PCSK9):c.1405C>T (p.Arg469Trp) rs141502002 0.00255
NM_000361.3(THBD):c.127G>A (p.Ala43Thr) rs1800576 0.00253
NM_000064.4(C3):c.463A>C (p.Lys155Gln) rs147859257 0.00250
NM_001063.4(TF):c.956A>G (p.His319Arg) rs41295774 0.00248
NM_007315.4(STAT1):c.796G>A (p.Val266Ile) rs41473544 0.00246
NM_001374385.1(ATP8B1):c.208G>A (p.Asp70Asn) rs34719006 0.00245
NM_014874.4(MFN2):c.1403G>A (p.Arg468His) rs138382758 0.00237
NM_139027.6(ADAMTS13):c.1423C>T (p.Pro475Ser) rs11575933 0.00232
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751 0.00230
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn) rs138480801 0.00230
NM_001009944.3(PKD1):c.6749C>T (p.Thr2250Met) rs139971481 0.00222
NM_000514.4(GDNF):c.448G>A (p.Asp150Asn) rs76466003 0.00221
NM_001388453.1(QRICH2):c.4705C>T (p.Arg1569Cys) rs146485823 0.00215
NM_005413.4(SIX3):c.109G>T (p.Gly37Cys) rs199823175 0.00210
NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His) rs76024428 0.00209
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_000483.5(APOC2):c.178G>A (p.Glu60Lys) rs5122 0.00206
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364 0.00206
NM_017986.4(SLC52A1):c.1134+11G>A rs141935493 0.00204
NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg) rs138410949 0.00203
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu) rs121909352 0.00198
NM_033118.4(MYLK2):c.284C>A (p.Ala95Glu) rs121908108 0.00196
NM_000193.4(SHH):c.869G>A (p.Gly290Asp) rs104894047 0.00191
NM_000520.6(HEXA):c.739C>T (p.Arg247Trp) rs121907970 0.00190
NM_001171038.2(ASMT):c.562+2T>C rs148855515 0.00189
NM_005956.4(MTHFD1):c.878G>A (p.Arg293His) rs34181110 0.00189
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr) rs17227396 0.00188
NM_003000.3(SDHB):c.32G>A (p.Arg11His) rs111430410 0.00185
NM_020634.3(GDF3):c.796C>T (p.Arg266Cys) rs140926412 0.00178
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_000371.4(TTR):c.416C>T (p.Thr139Met) rs28933981 0.00177
NM_016729.3(FOLR1):c.493+2T>C rs144637717 0.00175
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu) rs2227624 0.00167
NM_006172.4(NPPA):c.190A>C (p.Ser64Arg) rs61757261 0.00165
NM_000044.6(AR):c.1174C>T (p.Pro392Ser) rs201934623 0.00163
NM_001099857.5(IKBKG):c.169G>A (p.Glu57Lys) rs148695964 0.00158
NM_000354.5(SERPINA7):c.631G>A (p.Ala211Thr) rs2234036 0.00157
NM_000185.4(SERPIND1):c.623G>A (p.Arg208His) rs5907 0.00156
NM_003265.3(TLR3):c.2224C>T (p.Leu742Phe) rs147431766 0.00153
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val) rs61748381 0.00150
NM_001379200.1(TBX1):c.955G>A (p.Gly319Ser) rs41298838 0.00148
NM_015627.3(LDLRAP1):c.605C>A (p.Ser202Tyr) rs121908326 0.00147
NM_145725.3(TRAF3):c.352C>T (p.Arg118Trp) rs143813189 0.00147
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966 0.00145
NM_000094.4(COL7A1):c.4373C>T (p.Pro1458Leu) rs79378857 0.00141
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) rs79204362 0.00125
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528 0.00119
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln) rs147876778 0.00119
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00115
NM_000078.3(CETP):c.1376A>G (p.Asp459Gly) rs2303790 0.00102
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln) rs75654767 0.00101
NM_004807.3(HS6ST1):c.1144C>T (p.Arg382Trp) rs199538589 0.00101
NM_022336.4(EDAR):c.1138A>C (p.Ser380Arg) rs146567337 0.00095
NM_001148.6(ANK2):c.11716C>T (p.Arg3906Trp) rs121912706 0.00094
NM_001319206.4(MEF2A):c.782A>G (p.Asn261Ser) rs121918530 0.00094
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530 0.00093
NM_014009.4(FOXP3):c.155G>T (p.Gly52Val) rs17847095 0.00086
NM_000157.4(GBA1):c.1483G>C (p.Ala495Pro) rs368060 0.00081
NM_000256.3(MYBPC3):c.649A>G (p.Ser217Gly) rs138753870 0.00076
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) rs137853247 0.00076
NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser) rs146132083 0.00076
NM_012452.3(TNFRSF13B):c.605G>A (p.Arg202His) rs104894649 0.00076
NM_139027.6(ADAMTS13):c.3400+141G>A rs192619276 0.00076
NM_199161.5(SAA1):c.269G>A (p.Gly90Asp) rs79681911 0.00076
NM_001211.6(BUB1B):c.1649G>A (p.Arg550Gln) rs28989187 0.00074
NM_000447.3(PSEN2):c.389C>T (p.Ser130Leu) rs63750197 0.00073
NM_004393.6(DAG1):c.331G>A (p.Asp111Asn) rs117209107 0.00072
NM_000531.6(OTC):c.298+5G>C rs72554348 0.00069
NM_001371279.1(REEP1):c.837G>T (p.Ser279=) rs377637314 0.00068
NM_001399.5(EDA):c.1001G>A (p.Arg334His) rs142948132 0.00066
NM_005505.5(SCARB1):c.1127C>T (p.Pro376Leu) rs74830677 0.00066
NM_015375.3(DSTYK):c.86G>A (p.Arg29Gln) rs200780796 0.00065
NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe) rs1805031 0.00064
NM_007294.4(BRCA1):c.4992C>T (p.Leu1664=) rs142459158 0.00061
NM_004092.4(ECHS1):c.489G>A (p.Pro163=) rs140410716 0.00060
NM_198578.4(LRRK2):c.7153G>A (p.Gly2385Arg) rs34778348 0.00058
NM_001032386.2(SUOX):c.228G>T (p.Arg76Ser) rs202085145 0.00057
NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile) rs147056383 0.00057
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567 0.00053
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg) rs201278114 0.00053
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697 0.00053
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter) rs375290498 0.00052
NM_000350.3(ABCA4):c.6730-19G>A rs375179475 0.00051
NM_001371904.1(APOA5):c.944C>T (p.Ala315Val) rs143292359 0.00050
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145 0.00049
NM_007272.3(CTRC):c.703G>A (p.Val235Ile) rs140993290 0.00049
NM_003244.4(TGIF1):c.320A>T (p.Gln107Leu) rs28939693 0.00048
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964 0.00046
NM_001142864.4(PIEZO1):c.7174G>A (p.Glu2392Lys) rs528448732 0.00046
NM_024009.3(GJB3):c.580G>A (p.Ala194Thr) rs117385606 0.00046
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855 0.00044
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp) rs150673992 0.00044
NM_002887.4(RARS1):c.1367C>T (p.Ser456Leu) rs139644798 0.00044
NM_178452.6(DNAAF1):c.1698+1G>A rs139519641 0.00041
NM_000036.3(AMPD1):c.1274G>A (p.Arg425His) rs121912682 0.00040
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829 0.00039
NM_000371.4(TTR):c.328C>A (p.His110Asn) rs121918074 0.00038
NM_000216.4(ANOS1):c.1187C>T (p.Ser396Leu) rs137852517 0.00037
NM_002769.5(PRSS1):c.623G>C (p.Gly208Ala) rs189270875 0.00035
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys) rs201477273 0.00033
NM_018117.12(WDR11):c.3450T>G (p.Phe1150Leu) rs139007744 0.00033
NM_000371.4(TTR):c.371G>A (p.Arg124His) rs121918095 0.00032
NM_000536.4(RAG2):c.644C>T (p.Thr215Ile) rs35691292 0.00032
NM_005912.3(MC4R):c.523G>A (p.Ala175Thr) rs121913563 0.00029
NM_000187.4(HGD):c.221A>T (p.Glu74Val) rs141965690 0.00027
NM_000290.4(PGAM2):c.290G>A (p.Gly97Asp) rs77938727 0.00026
NM_000132.4(F8):c.3169G>A (p.Glu1057Lys) rs28933673 0.00025
NM_000361.3(THBD):c.-151G>T rs16984852 0.00025
NM_018055.5(NODAL):c.548G>A (p.Arg183Gln) rs104894169 0.00023
NM_004360.5(CDH1):c.1018A>G (p.Thr340Ala) rs116093741 0.00022
NM_033380.3(COL4A5):c.2692A>G (p.Met898Val) rs104886192 0.00020
NM_000249.4(MLH1):c.394G>C (p.Asp132His) rs28930073 0.00019
NM_173551.5(ANKS6):c.1322A>G (p.Gln441Arg) rs377750405 0.00019
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661 0.00018
NM_001110792.2(MECP2):c.1318G>A (p.Gly440Ser) rs61753971 0.00011
NM_032737.4(LMNB2):c.1279G>A (p.Ala427Thr) rs57521499 0.00006
NM_000202.8(IDS):c.851C>T (p.Pro284Leu) rs782286857 0.00005
NM_000492.4(CFTR):c.3469-20T>C rs373002889 0.00005
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254 0.00005
NM_001273.5(CHD4):c.4822G>A (p.Val1608Ile) rs201992075 0.00005
NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu) rs80356779 0.00005
NM_013444.4(UBQLN2):c.1573C>T (p.Pro525Ser) rs369947678 0.00005
NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter) rs201217593 0.00004
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355 0.00004
NM_001308093.3(GATA4):c.1276G>A (p.Asp426Asn) rs56208331 0.00003
NM_007294.4(BRCA1):c.594-2A>C rs80358033 0.00003
NM_000531.6(OTC):c.148G>A (p.Gly50Arg) rs67486158 0.00002
NM_001060.6(TBXA2R):c.179G>T (p.Arg60Leu) rs34377097 0.00002
NM_001110792.2(MECP2):c.414-3C>T rs267608465 0.00002
NM_001353108.3(CEP63):c.1068-1G>A rs752207334 0.00002
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014 0.00001
NM_000059.4(BRCA2):c.7992T>A (p.Ile2664=) rs80359800 0.00001
NM_000261.2(MYOC):c.144G>T (p.Gln48His) rs74315339 0.00001
NM_000264.5(PTCH1):c.1177G>A (p.Ala393Thr) rs199476091 0.00001
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr) rs768430352 0.00001
NM_000527.5(LDLR):c.1966C>A (p.His656Asn) rs762815611 0.00001
NM_005502.4(ABCA1):c.3865G>A (p.Asp1289Asn) rs137854500 0.00001
NM_024817.3(THSD4):c.2341C>T (p.Arg781Trp) rs767807136 0.00001
NM_174936.4(PCSK9):c.385G>A (p.Asp129Asn) rs778738291 0.00001
GRCh37/hg19 5q34(chr5:160715688-160717804)
GRCh37/hg19 5q34(chr5:160796703-160797020)
GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x1
GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x3
GRCh38/hg38 Xp22.31(chrX:6570680-8129470)x1
Multiple alleles
NCBI36/hg18 16p11.2-q24.3(chr16:31893599-33705883)x3
NC_000011.10:g.1219991G>T rs35705950
NC_000011.10:g.47332282_47332306del rs36212066
NC_012920.1(MT-ND1):m.3796A>G rs28357970
NC_012920.1(MT-TC):m.5814T>C rs200077222
NC_012920.1(MT-TQ):m.4336T>C rs41456348
NM_000020.3(ACVRL1):c.1027C>T (p.Gln343Ter) rs1064796530
NM_000094.4(COL7A1):c.8524_8527+10del rs566181351
NM_000135.4(FANCA):c.710-142_710-141dup rs17232344
NM_000140.5(FECH):c.163G>T (p.Gly55Cys) rs3848519
NM_000155.4(GALT):c.-119_-116delGTCA rs111033640
NM_000202.8(IDS):c.1454T>C (p.Ile485Thr) rs782430567
NM_000202.8(IDS):c.613G>A (p.Ala205Thr) rs864622779
NM_000209.4(PDX1):c.714GCC[6] (p.Pro244_Gly245insPro) rs193922357
NM_000233.4(LHCGR):c.50_55dup (p.Gln18_Pro19insLeuGln) rs71245621
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000341.4(SLC3A1):c.1854G>A (p.Met618Ile) rs698761
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg) rs61748536
NM_000433.4(NCF2):c.1183C>T (p.Arg395Trp) rs13306575
NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln) rs35350960
NM_000492.4(CFTR):c.1210-15_1210-10del rs2115902212
NM_000492.4(CFTR):c.1210-34TG[12] rs3832534
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000500.9(CYP21A2):c.293-13C>A rs6467
NM_000518.5(HBB):c.363A>C (p.Lys121Asn) rs34726542
NM_000525.4(KCNJ11):c.601C>T (p.Arg201Cys) rs80356625
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn) rs139361635
NM_000527.5(LDLR):c.1359-31_1359-23delinsCGGCT rs879254876
NM_000527.5(LDLR):c.2389+5G>A rs879255191
NM_000527.5(LDLR):c.941-12G>A rs879254734
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser) rs72658860
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs) rs587779335
NM_000548.5(TSC2):c.1362-10C>A rs45446697
NM_000797.4(DRD4):c.235_247del (p.Ala79fs) rs587776842
NM_000892.5(KLKB1):c.451dup (p.Ser151fs) rs560588447
NM_001042492.3(NF1):c.730+2T>G rs200962248
NM_001110792.2(MECP2):c.1169C>T (p.Ala390Val) rs201314910
NM_001167.4(XIAP):c.1045GAG[1] (p.Glu350del) rs199683465
NM_001194.4(HCN2):c.2144CGC[4] (p.Pro719_Pro721del) rs527536363
NM_001271.4(CHD2):c.3735del (p.Lys1245fs) rs752940775
NM_001308093.3(GATA4):c.1149+129C>T rs116052854
NM_001308093.3(GATA4):c.1149+177C>T rs12156163
NM_001329.4(CTBP2):c.22A>T (p.Lys8Ter) rs76555439
NM_001363.5(DKC1):c.1156G>A (p.Ala386Thr) rs199422252
NM_001394783.1(CCR5):c.554_585del (p.Ser185fs) rs333
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del) rs533875300
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_002769.4(PRSS1):c.-30_-28delTCC rs386134264
NM_003052.5(SLC34A1):c.272_292del (p.Val91_Ala97del) rs876661296
NM_003482.4(KMT2D):c.4163G>T (p.Arg1388Leu) rs202217665
NM_003661.4(APOL1):c.1164_1169del (p.Asn388_Tyr389del) rs71785313
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685
NM_004407.4(DMP1):c.1A>G (p.Met1Val) rs104893834
NM_004409.5(DMPK):c.*224CTG[32]
NM_004643.4(PABPN1):c.3GGC[8] (p.Ala11_Gly12insAla) rs193922941
NM_005210.4(CRYGB):c.10-38del rs3214759
NM_005577.4(LPA):c.4289+1G>A rs41272114
NM_005850.5(SF3B4):c.1060dup (p.Arg354fs) rs782357237
NM_006005.3(WFS1):c.1829del (p.Leu610fs) rs1578611240
NM_006208.3(ENPP1):c.2101-11del rs397832689
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_006416.5(SLC35A1):c.752-157_752-156insCTCA rs10638303
NM_006563.5(KLF1):c.519_525dup (p.Gly176fs) rs483352838
NM_006885.4(ZFHX3):c.10142_10165del (p.Arg3381_Gln3388del) rs727502780
NM_007294.4(BRCA1):c.4327C>G (p.Arg1443Gly) rs41293455
NM_014000.3(VCL):c.2862_2864del (p.Leu955del) rs397517237
NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del) rs281865195
NM_015443.4(KANSL1):c.985_986del (p.Leu329fs) rs281865473
NM_015602.4(TOR1AIP1):c.830C>G (p.Ser277Ter) rs2148480016
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del) rs150384171
NM_017617.5(NOTCH1):c.5965G>A (p.Asp1989Asn) rs587777734
NM_018418.5(SPATA7):c.20_23delTCAG rs527236050
NM_022124.6(CDH23):c.4104+15del rs1839422034
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs) rs2066847
NM_024589.3(ROGDI):c.45+37_46-30del rs786205125
NM_024824.5(ZC3H14):c.2204+17_2204+41del rs571303442
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del) rs113363047
NM_033409.4(SLC52A3):c.568-16_568-15insCTGATTGAC rs3833341
NM_145899.3(HMGA1):c.136-14dup rs139876191
NM_170606.3(KMT2C):c.6339A>C (p.Ser2113=) rs73161892
NM_174936.4(PCSK9):c.158C>T (p.Ala53Val) rs11583680
NM_174936.4(PCSK9):c.212C>T (p.Pro71Leu) rs569379713
NM_183065.4(TMEM107):c.*751C>T rs117595965
NM_183065.4(TMEM107):c.*760G>T rs116395281
NM_198578.4(LRRK2):c.4883G>C (p.Arg1628Pro) rs33949390
NM_207034.3(EDN3):c.49G>A (p.Ala17Thr) rs11570255
Single allele
UGT1A1*28 rs3064744
UGT1A1*37 rs3064744

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