ClinVar Miner

Variants with conflicting interpretations "pathogenic" and "pathogenic"

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

Total variants with conflicting interpretations: 183

HGVS dbSNP gnomAD frequency
NM_001072.4(UGT1A6):c.862-10021T>G rs4124874 0.55614
NM_000041.4(APOE):c.388T>C (p.Cys130Arg) rs429358 0.16059
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_016362.5(GHRL):c.214C>A (p.Leu72Met) rs696217 0.07295
NM_000140.5(FECH):c.315-48T>C rs2272783 0.06828
NM_003661.4(APOL1):c.1024A>G (p.Ser342Gly) rs73885319 0.06773
NM_003661.4(APOL1):c.1152T>G (p.Ile384Met) rs60910145 0.06255
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466 0.04034
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03738
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581 0.02951
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln) rs61747728 0.02796
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02788
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 0.01412
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) rs1799807 0.01259
NM_000506.5(F2):c.*97G>A rs1799963 0.00953
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_005105.5(RBM8A):c.67+32G>C rs201779890 0.00518
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00408
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00393
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00391
NM_000070.3(CAPN3):c.1746-20C>G rs201892814 0.00312
NM_016335.6(PRODH):c.1322T>C (p.Leu441Pro) rs2904551 0.00282
NM_000939.4(POMC):c.706C>G (p.Arg236Gly) rs28932472 0.00279
NM_032782.5(HAVCR2):c.291A>G (p.Ile97Met) rs35960726 0.00270
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr) rs114925667 0.00164
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956 0.00158
NM_005084.4(PLA2G7):c.835G>T (p.Val279Phe) rs76863441 0.00131
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_198578.4(LRRK2):c.7153G>A (p.Gly2385Arg) rs34778348 0.00058
NM_000204.5(CFI):c.355G>A (p.Gly119Arg) rs141853578 0.00040
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) rs77375493 0.00037
NM_002016.2(FLG):c.3321del (p.Gly1109fs) rs200519781 0.00036
NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys) rs112735431 0.00030
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_172201.2(KCNE2):c.161T>C (p.Met54Thr) rs74315447 0.00024
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130 0.00023
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys) rs121913059 0.00018
NM_003647.3(DGKE):c.966G>A (p.Trp322Ter) rs138924661 0.00015
NM_014625.4(NPHS2):c.868G>A (p.Val290Met) rs200482683 0.00012
NM_016222.4(DDX41):c.3G>A (p.Met1Ile) rs141601766 0.00012
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys) rs118192172 0.00011
NM_016222.4(DDX41):c.415_418dup (p.Asp140delinsGlyTer) rs762890562 0.00007
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys) rs80356771 0.00006
NM_014714.4(IFT140):c.1377G>A (p.Trp459Ter) rs140039128 0.00006
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593 0.00005
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met) rs118192177 0.00004
NM_000204.5(CFI):c.80_81del (p.Asp27fs) rs886043418 0.00003
NM_002016.2(FLG):c.7661C>G (p.Ser2554Ter) rs121909626 0.00003
NM_002878.4(RAD51D):c.556C>T (p.Arg186Ter) rs387906843 0.00003
NM_005085.4(NUP214):c.112C>T (p.Arg38Cys) rs143595616 0.00003
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_002878.4(RAD51D):c.363del (p.Ala122fs) rs730881935 0.00002
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter) rs180177132 0.00002
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter) rs587776527 0.00002
NM_000077.5(CDKN2A):c.458-105A>G rs1060501266 0.00001
NM_000077.5(CDKN2A):c.71G>C (p.Arg24Pro) rs104894097 0.00001
NM_000204.5(CFI):c.1015C>T (p.Arg339Ter) rs762761680 0.00001
NM_000540.3(RYR1):c.6487C>T (p.Arg2163Cys) rs118192175 0.00001
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys) rs28933397 0.00001
NM_000540.3(RYR1):c.7373G>A (p.Arg2458His) rs121918594 0.00001
NM_000546.6(TP53):c.1010G>A (p.Arg337His) rs121912664 0.00001
NM_000546.6(TP53):c.524G>A (p.Arg175His) rs28934578 0.00001
NM_000546.6(TP53):c.536A>G (p.His179Arg) rs1057519991 0.00001
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) rs121913343 0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574 0.00001
NM_000551.4(VHL):c.499C>T (p.Arg167Trp) rs5030820 0.00001
NM_001127198.5(TMC6):c.280C>T (p.Arg94Ter) rs121908327 0.00001
NM_001256071.3(RNF213):c.12037G>A (p.Asp4013Asn) rs397514563 0.00001
NM_002382.5(MAX):c.223C>T (p.Arg75Ter) rs387906650 0.00001
NM_002878.4(RAD51D):c.803G>A (p.Trp268Ter) rs750219200 0.00001
NM_005084.4(PLA2G7):c.663+1G>A rs201899866 0.00001
NM_005896.4(IDH1):c.395G>A (p.Arg132His) rs121913500 0.00001
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met) rs121434502 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_024675.4(PALB2):c.1653T>A (p.Tyr551Ter) rs118203997 0.00001
NM_052813.5(CARD9):c.865C>T (p.Gln289Ter) rs398122363 0.00001
NM_058216.3(RAD51C):c.414G>C (p.Leu138Phe) rs267606999 0.00001
NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp) rs267607017 0.00001
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs) rs121913224
NM_000069.3(CACNA1S):c.3257G>A (p.Arg1086His) rs1800559
NM_000075.4(CDK4):c.70C>T (p.Arg24Cys) rs11547328
NM_000077.5(CDKN2A):c.167G>T (p.Ser56Ile) rs104894109
NM_000077.5(CDKN2A):c.176T>G (p.Val59Gly) rs104894099
NM_000077.5(CDKN2A):c.301G>T (p.Gly101Trp) rs104894094
NM_000077.5(CDKN2A):c.377T>A (p.Val126Asp) rs104894098
NM_000102.4(CYP17A1):c.715C>T (p.Arg239Ter) rs104894136
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_000186.4(CFH):c.2697T>A (p.Tyr899Ter) rs121913057
NM_000186.4(CFH):c.3398C>G (p.Ser1133Ter) rs1652987369
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu) rs460897
NM_000222.3(KIT):c.1676_1681del (p.Val559_Val560del) rs121913685
NM_000222.3(KIT):c.1735_1737del (p.Asp579del) rs1060502543
NM_000268.4(NF2):c.169C>T (p.Arg57Ter) rs121434259
NM_000321.3(RB1):c.1215+1G>A rs587776783
NM_000321.3(RB1):c.289del (p.Glu97fs) rs2542155892
NM_000321.3(RB1):c.857A>G (p.Asp286Gly) rs1131690864
NM_000459.5(TEK):c.2740C>T (p.Leu914Phe) rs1825682849
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000540.3(RYR1):c.1021G>A (p.Gly341Arg) rs121918592
NM_000540.3(RYR1):c.14387A>G (p.Tyr4796Cys) rs118192167
NM_000540.3(RYR1):c.14477C>T (p.Thr4826Ile) rs121918595
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.3(RYR1):c.1565A>C (p.Tyr522Ser) rs118192162
NM_000540.3(RYR1):c.487C>T (p.Arg163Cys) rs118192161
NM_000540.3(RYR1):c.6488G>A (p.Arg2163His) rs118192163
NM_000540.3(RYR1):c.6502G>A (p.Val2168Met) rs118192176
NM_000540.3(RYR1):c.7039GAG[1] (p.Glu2348del) rs121918596
NM_000540.3(RYR1):c.7304G>A (p.Arg2435His) rs28933396
NM_000540.3(RYR1):c.742G>A (p.Gly248Arg) rs1801086
NM_000546.6(TP53):c.527G>T (p.Cys176Phe) rs786202962
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) rs760043106
NM_000546.6(TP53):c.734G>A (p.Gly245Asp) rs121912656
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000551.4(VHL):c.277G>A (p.Gly93Ser) rs5030808
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys) rs121434592
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002072.5(GNAQ):c.627A>C (p.Gln209His) rs2118444312
NM_002382.5(MAX):c.97C>T (p.Arg33Ter) rs387906651
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002691.4(POLD1):c.1421T>C (p.Leu474Pro) rs587777627
NM_002691.4(POLD1):c.1433G>A (p.Ser478Asn) rs397514632
NM_002878.4(RAD51D):c.757C>T (p.Arg253Ter) rs137886232
NM_003073.5(SMARCB1):c.*82C>T rs878854600
NM_003079.5(SMARCE1):c.715C>T (p.Arg239Ter) rs397509405
NM_003661.3(APOL1):c.[1024A>G;1152T>G]
NM_003661.4(APOL1):c.1164_1169del (p.Asn388_Tyr389del) rs71785313
NM_004304.5(ALK):c.3383G>C (p.Gly1128Ala) rs113994088
NM_004304.5(ALK):c.3575G>C (p.Arg1192Pro) rs113994089
NM_004304.5(ALK):c.3824G>A (p.Arg1275Gln) rs113994087
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004985.5(KRAS):c.37G>C (p.Gly13Arg) rs121913535
NM_005896.4(IDH1):c.395G>T (p.Arg132Leu) rs121913500
NM_006206.6(PDGFRA):c.1682T>A (p.Val561Asp) rs121908586
NM_006206.6(PDGFRA):c.2525A>T (p.Asp842Val) rs121908585
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006231.4(POLE):c.1270C>G (p.Leu424Val) rs483352909
NM_006267.5(RANBP2):c.1966A>G (p.Ile656Val) rs121434504
NM_007272.3(CTRC):c.738_761del (p.Lys247_Arg254del) rs515726210
NM_007289.4(MME):c.467del (p.Pro156fs) rs749320057
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_012309.5(SHANK2):c.2521C>T (p.Arg841Ter) rs2135751909
NM_014714.4(IFT140):c.2767_2768+2del rs769075694
NM_016222.4(DDX41):c.1574G>A (p.Arg525His) rs869312828
NM_017849.4(TMEM127):c.410-2A>C rs121908826
NM_018196.4(TMLHE):c.961_962del (p.Ile321fs) rs782624357
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_020975.6(RET):c.538C>T (p.Arg180Ter) rs76449634
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs) rs2066847
NM_023110.3(FGFR1):c.1042G>A (p.Gly348Arg) rs886037634
NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys) rs779707422
NM_023110.3(FGFR1):c.1825C>T (p.Arg609Ter) rs121909639
NM_023110.3(FGFR1):c.1864C>T (p.Arg622Ter) rs121909628
NM_023110.3(FGFR1):c.2008G>A (p.Glu670Lys) rs397515446
NM_023110.3(FGFR1):c.749G>A (p.Arg250Gln) rs121909645
NM_024675.4(PALB2):c.172_175del (p.Gln60fs) rs180177143
NM_030930.4(UNC93B1):c.1038_1041del (p.Phe346fs) rs759883057
NM_052813.5(CARD9):c.820dup (p.Asp274fs) rs753050033
NM_052813.5(CARD9):c.883C>T (p.Gln295Ter) rs121918338
NM_058195.4(CDKN2A):c.194-3653G>T rs1800586
NM_058216.3(RAD51C):c.230del (p.Gly77fs) rs1057519355
NM_058216.3(RAD51C):c.397C>T (p.Gln133Ter) rs387907159
NM_058216.3(RAD51C):c.93del (p.Phe32fs) rs730881942
NM_172351.3(CD46):c.476-1G>A rs1441390681
PALB2:c.2515-1G>T rs587776417
Single allele
t(8;9)(q13.1;p22.3)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.