ClinVar Miner

Variants from Institute of Molecular and Cell Biology, University of Tartu

Location: Estonia  Primary collection method: case-control
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
0 0 0 0 0 344 344

Gene and significance breakdown #

Total genes and gene combinations: 322
Download table as spreadsheet
Gene or gene combination not provided total
​intergenic 101 101
ERBB4 5 5
LOC129390426, LOC132090103 4 4
DISC1, LINC00582, LOC129388776, LOC129388777, LOC129932770, LOC129932771, LOC129932772, TSNAX-DISC1 3 3
LOC116268429, LOC116268430, LOC116268431, LOC124625898, LOC126861438, LOC129390395, LOC130007317, LOC130007318, SLC2A14, SLC2A3 3 3
LOC132089060, LOC132089061, LOC132089062 3 3
MTUS1 3 3
RBFOX3 3 3
AADAC, AADACL2 2 2
ARL17A, ARL17B, KANSL1, LOC112533643, LOC126862577, LOC129390878, LRRC37A, LRRC37A2 2 2
ARL17B, KANSL1, LOC126862577, LOC129390878, LRRC37A 2 2
CCDC3, LOC107275223 2 2
CNOT2 2 2
CNTN5 2 2
CTNNA3, LOC132089819 2 2
GOLPH3, LOC126807344, PDZD2 2 2
HPN 2 2
IMMP2L 2 2
KIF26B 2 2
LINC01237, LINC01238, LINC01880, LINC01881, LINC03100, LOC122889016, LOC132205954, LOC285097 2 2
LINC01237, LINC01880, LINC01881, LINC03100, LOC122889016, LOC132205954, LOC285097 2 2
LINC02055 2 2
LOC130006532, LOC130006533, LOC130006534, PCF11 2 2
LOC132090103 2 2
MGAM 2 2
NIPA1 2 2
NKAIN2 2 2
NLGN1 2 2
NRXN1-DT 2 2
PIEZO2 2 2
PLCH2 2 2
REV1 2 2
SLC35F2 2 2
ABCC4, LOC130009962, LOC130009963, LOC130009964 1 1
ABCC4, LOC130009962, LOC130009963, LOC130009964, LOC130009965, LOC130009966 1 1
ABCD3, F3, LOC126805797, LOC129930977, LOC129930978, MIR12133, SLC44A3 1 1
ABR, BHLHA9, LOC130059873, LOC130059874, LOC130059875, LOC130059876, TRARG1 1 1
ACACB, LOC124819395, LOC130008713, LOC130008714 1 1
ACSL3, LOC129935685 1 1
ACY3, ALDH3B2, LOC124500678, LOC126861242, LOC130006216, LOC130006217, LOC130006218, LOC130006219, LOC130006220, LOC130006221, LOC130006222, LOC130006223, LOC130006224, LOC130006225, LOC130006226, LOC130006227, LOC130006228, LOC130006229, LOC130006230, NDUFV1, NDUFV1-DT, NUDT8, TBX10 1 1
ADGRG7, LOC129937149, LOC129937150, TFG 1 1
AGAP10, AGAP4, ANXA8L1, FAM25E, GPRIN2, NPY4R, SYT15, WASHC2C 1 1
AGAP10, ANXA8L1, NPY4R 1 1
AGBL4, AGBL4-IT1 1 1
AGO1 1 1
AGPAT4, LOC102724087, LOC123881356, LOC123881357, LOC126859863, LOC126859864, LOC129389716, LOC129389717, LOC129997629, LOC129997630, LOC129997631, LOC129997632, MAP3K4 1 1
AKAP12 1 1
AMY1A, AMY2A 1 1
ANAPC4, LOC129992330, LOC129992331, LOC129992332, LOC129992333, LOC129992334, LOC129992335, LOC129992336, LOC129992337, LOC129992338, LOC129992339, LOC129992340, PI4K2B, PI4K2B-DT, SEPSECS, SEPSECS-DT, ZCCHC4 1 1
ANKFN1 1 1
ANKS1B 1 1
ANO9, LOC130005062, LOC130005063, LOC130005064, LOC130005065, LOC130005066, LOC130005067, LOC130005068, PKP3, SIGIRR 1 1
ANTXR2, LOC129389222 1 1
AOC1 1 1
APBA1 1 1
APOBEC3D, APOBEC3F, LOC126863152, LOC130067443 1 1
ARHGAP11B, ARHGAP11B-DT, CHRFAM7A, GOLGA8H, GOLGA8J, GOLGA8Q, GOLGA8R, GOLGA8T, LINC02249, LOC106736464, LOC106736465, LOC106736468, LOC106736476, LOC106736480, LOC106783506 1 1
ARHGAP24, LOC126807102, LOC126807103, LOC129992790 1 1
ARID4A, LOC130055731 1 1
ARL17B, KANSL1, LRRC37A 1 1
ARPP21, LOC129936457 1 1
ASCL3 1 1
ATAD3B, ATAD3C, LOC129388422, LOC129929128, LOC129929129, LOC129929130 1 1
ATP8B3, LOC130062987 1 1
ATXN8OS 1 1
B3GAT1-DT, LINC02706, LINC02714, LOC121392954, LOC126861407, LOC132089908 1 1
B4GALNT4, IFITM1, IFITM2, IFITM3, IFITM5, LOC116216126, LOC130005042, LOC130005043, LOC130005044, LOC130005045, LOC130005046, LOC130005047, LOC130005048, LOC130005049, LOC130005050, LOC130005051, LOC130005052, LOC130005053, LOC130005054, LOC130005055, LOC130005056, LOC130005057, LOC130005058, LOC130005059, LOC130005060, LOC130005061, NLRP6, PGGHG, PKP3 1 1
BAIAP2L1, BRI3, LOC123956184, LOC126860119, LOC129389830, LOC129998851 1 1
BAZ2B, LOC120977012, LOC132088769 1 1
BBS9, LOC129998226, LOC129998227, LOC129998228 1 1
BPIFA3, LOC126863015 1 1
C2orf80 1 1
C8orf48, DLC1, LOC102725080, LOC132090783 1 1
CACNA1C 1 1
CACNA1I, LOC130067491 1 1
CASP12 1 1
CATSPER2, LOC130056948, LOC130056949, STRC 1 1
CCDC178, LOC126862724 1 1
CD160, PDZK1, RNF115 1 1
CDCA7L, DNAH11, LOC129998046, LOC129998047 1 1
CDK11A, LOC121677382, LOC129929145, LOC129929146, SLC35E2A, SLC35E2B 1 1
CDK11A, LOC129929146, SLC35E2A 1 1
CELA2A 1 1
CELA2A, CELA2B 1 1
CFAP46, INPP5A, NKX6-2 1 1
CFHR4, LOC122149335, LOC126805964 1 1
CFHR4, LOC126805964 1 1
CHRM3 1 1
CNTNAP2 1 1
COL21A1, LOC123744829 1 1
CRIP1, IGH, IGHA1, IGHA2, IGHD, IGHD3-3, IGHE, IGHG1, IGHG2, IGHG3, IGHG4, IGHM, IGHV3-23, TEDC1, TMEM121 1 1
CRTAM, LOC130006966, LOC130006967, LOC130006968, LOC130006969, LOC130006970 1 1
CSMD1 1 1
CTDSPL 1 1
CTNS, EMC6, LOC126862464, LOC130059979, LOC130059980, LOC130059981, LOC130059982, P2RX5, P2RX5-TAX1BP3, SHPK, TAX1BP3, TRPV1 1 1
CYB5R4, LOC113175019, LOC116183065, LOC123775380, LOC129996769, LOC129996770, RIPPLY2, RIPPLY2-CYB5R4 1 1
CYP2A6, LOC110673974 1 1
CYP2C19, LOC110599570, LOC111982881 1 1
CYP2E1, LOC110599585, LOC126861107, LOC129390242, LOC130005032, LOC130005033, LOC130005034, LOC130005035, LOC130005036, MTG1, SCART1, SPRN, SYCE1 1 1
CYP2E1, LOC110599585, LOC126861107, LOC129390242, LOC130005033, LOC130005034, LOC130005035, LOC130005036, SCART1, SYCE1 1 1
DGCR5, DGCR6, FAM230F, HSERVPRODH, LOC122455341, PRODH 1 1
DHRS4L1, DHRS4L2, LOC130055378, LOC130055379 1 1
DNAH3, LOC126862312, LYRM1 1 1
DNAJB13, LOC130006402, LOC130006403, LOC130006404, LOC130006405, LOC130006406, LOC130006407, LOC130006408, PAAF1, UCP2 1 1
DOCK4 1 1
DOCK8 1 1
DOCK8, FOXD4, LINC01388, LOC110120718, LOC124210604, LOC129390061, LOC130001433, LOC130001434, LOC130001435, LOC130001436, LOC130001437, LOC130001438, PGM5P3, ZNG1A 1 1
DOCK8, KANK1, LOC126860553, LOC129390062, LOC130001441, LOC130001442, LOC130001443 1 1
DOK6 1 1
DPH6, LOC126862102 1 1
DPH6-DT 1 1
DPY19L2, LOC108720144, LOC130008194 1 1
DSEL, LINC01903, LOC105372173 1 1
DTX2, UPK3B 1 1
EHD4, LOC105370792, LOC130056904, SPTBN5 1 1
ELOVL6, LOC116158506, LOC121725181, LOC123477803, LOC129992962 1 1
EPHA3 1 1
EYS 1 1
FAM110C 1 1
FAM20A 1 1
FCGR2A, HSPA6, LOC129931772, TRG-GCC2-1, TRG-TCC2-6, TRL-CAG1-6 1 1
FGF12 1 1
FKBP15, LOC126860733, LOC130002409, LOC130002410, LOC130002411, SLC31A1 1 1
FPR2, FPR3, LOC125384531, LOC126862921, LOC126862922, LOC126862923, LOC130065045, LOC130065046, LOC130065047, LOC130065048, LOC132090551, ZNF350, ZNF432, ZNF577, ZNF613, ZNF614, ZNF615, ZNF616, ZNF649, ZNF841 1 1
FRG1 1 1
FRG2C, LINC00960, LINC02018, LOC112935961, LOC129937069, LOC129937070, LOC129937071, LOC129937072, LOC129937073, MIR1324 1 1
GALC 1 1
GALNT13 1 1
GALNT13, LOC126806381 1 1
GK2, LINC00989, LINC01088, NAA11 1 1
GOLGA6L6, OR4M2, OR4N4, POTEB, POTEB2 1 1
GPR35, LOC122889014, LOC129935986, LOC129935987, LOC129935988 1 1
GRID1 1 1
GRID2 1 1
GRIK4, LOC130006923 1 1
GRIN2A 1 1
GRK3 1 1
GRM5 1 1
GTF2F2, KCTD4, LOC101929259, LOC130009692, LOC130009693, LOC130009694, TPT1 1 1
HCG26, HCP5, LINC01149, LOC121132677, MICA, MICB-DT 1 1
HCG4B 1 1
HNRNPCL1, PRAMEF11 1 1
HRG, LOC126806897 1 1
HYCC2, LOC105373835, LOC129935396, LOC129935397, NDUFB3 1 1
IGH, IGHA1, IGHA2, IGHD, IGHD3-3, IGHE, IGHG1, IGHG2, IGHG3, IGHG4, IGHM, IGHV3-23 1 1
IGH, IGHD3-3, IGHV3-23 1 1
ITSN1 1 1
IZUMO2, KCNC3, LOC111811967, LOC121852992, LOC125384525, LOC130064961, LOC130064962, LOC130064963, LOC130064964, LOC130064965, LOC130064966, LOC130064967, LOC130064968, LOC130064969, LOC130064970, LOC130064971, LOC130064972, LOC130064973, LOC130064974, LOC130064975, LOC130064976, LOC130064977, LOC130064978, LOC130064979, LOC130064980, LOC130064981, LOC130064982, LOC130064983, LOC130064984, MYH14, NAPSA, NR1H2, POLD1, SNAR-A10, SNAR-A11, SNAR-A14, SNAR-A4, SNAR-A5, SNAR-A6, SNAR-A7, SNAR-A8, SNAR-A9, SNAR-B1, SNAR-B2, SNAR-D, VRK3, ZNF473, ZNF473CR 1 1
JADE1, LOC129993079, LOC129993080, LOC129993081, SCLT1 1 1
JRKL, LINC02737 1 1
KIF23, LOC130057396, LOC130057397, PAQR5 1 1
KLHL1 1 1
KMT2C, LINC01003, LOC123956272, LOC123956273, LOC129389938, LOC129999676, LOC129999677, LOC129999678, LOC129999679, LOC129999680, LOC129999681, LOC129999682, LOC129999683, LOC129999684 1 1
KNG1 1 1
KRT6C 1 1
LDB2 1 1
LINC00276 1 1
LINC00343, LOC126861837, LOC126861838 1 1
LINC00621, LOC105370109, LOC130009361 1 1
LINC00659, NTSR1 1 1
LINC00871 1 1
LINC01192, LOC132088897, LOC132088898, LOC132088899, LOC132088900 1 1
LINC01216 1 1
LINC01250, LOC129932985, LOC129932986 1 1
LINC01266, LOC129936035 1 1
LINC01322 1 1
LINC01566, LOC105371200, LOC112268173, LOC112441448 1 1
LINC01722 1 1
LINC01826 1 1
LINC01950 1 1
LINC01957, LOC101927078 1 1
LINC02018, LOC112935961, LOC129937069, LOC129937070, LOC129937071, LOC129937072 1 1
LINC02089, LINC02876 1 1
LINC02112, TAS2R1 1 1
LINC02208 1 1
LINC02267, LOC129389226 1 1
LINC02316, LINC02328 1 1
LINC02415, LOC130009221 1 1
LINC02510, LINC02511 1 1
LINC02699 1 1
LINC02770 1 1
LINC02888, LOC126859952 1 1
LINC02890, LOC130058647, LOC130058648, NPIPB5 1 1
LINC03009, LOC108228209, LOC123956172, LOC126860076, LOC129389817, LOC129998701, POMZP3, SPDYE16, UPK3B 1 1
LINC03078, LOC284344, PSG11, PSG4, PSG5, PSG9 1 1
LINGO2 1 1
LMNTD1 1 1
LOC100505915, LOC112340378, LOC129390770, MIR3180-4, MIR6511B2, MPV17L, MPV17L-BMERB1, NPIPA5, PDXDC1, RRN3 1 1
LOC101928924, OCLN 1 1
LOC101929572, OR11H12, OR11H2, OR4K1, OR4K13, OR4K14, OR4K15, OR4K17, OR4K2, OR4K5, OR4L1, OR4M1, OR4N2, OR4N5, OR4Q3, POTEG, POTEM 1 1
LOC101929572, OR11H12, OR11H2, OR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3, POTEG, POTEM 1 1
LOC102724465 1 1
LOC105371933, LOC126862540, LOC130060718, LOC130060719, LOC130060720, LOC130060721, LOC130060722, LOC130060723, LOC130060724, LOC130060725, SLFN11, SLFN12, SLFN13 1 1
LOC105375976, LOC121811699 1 1
LOC105379109, LOC132089160 1 1
LOC108281140, LOC132088707, MEGF6 1 1
LOC108942766, LOC116268429, LOC116268430, LOC116268431, LOC124625898, LOC126861438, LOC126861439, LOC129390395, LOC130007316, LOC130007317, LOC130007318, NANOG, SLC2A14, SLC2A3 1 1
LOC108942766, LOC116268429, LOC124625898, LOC126861438, LOC129390395, LOC130007316, LOC130007317, NANOG, SLC2A14, SLC2A3 1 1
LOC110120572, ZFHX3 1 1
LOC110673974 1 1
LOC111429611, LOC129390019 1 1
LOC111501788, LOC129936102 1 1
LOC111828495, SAFB2, TINCR 1 1
LOC111828512, MOGAT1 1 1
LOC112340392, SULT1A1, SULT1A2 1 1
LOC112533660, LOC121852945, LOC125316774, LOC125316775, LOC129390915, LOC130061470, LOC130061471, PRKCA 1 1
LOC116183048, LOC116183049, LOC123620077, LOC129996121, LOC129996122, TRI-AAT2-1, TRI-AAT8-1, TRR-ACG2-4, TRS-CGA3-1, TRT-AGT2-2, TRV-AAC4-1 1 1
LOC116276448, LOC126862291, SNX29 1 1
LOC120893139, LOC122056889, LOC126805737, LOC129930613, LOC129930614, TACSTD2 1 1
LOC121048732 1 1
LOC121132708, LOC129997289, NHSL1 1 1
LOC122056846, LOC126805716 1 1
LOC122152347, MTR 1 1
LOC122756690 1 1
LOC123000071, LOC126806706 1 1
LOC123477713, LOC123477714, LOC126807001, LOC126807002, LOC129992322, LOC129992323 1 1
LOC123575679 1 1
LOC123956172, LOC129389817, LOC129998701 1 1
LOC124310574 1 1
LOC125078019, LOC126862020, LOC130056269, LOC130056270, NRDE2 1 1
LOC125316774, LOC125316775, LOC129390915, LOC130061470, LOC130061471, PRKCA 1 1
LOC125418080, LOC125418081, SIK1 1 1
LOC126805813 1 1
LOC126859636, OR2J2 1 1
LOC126860321, LOC129999959 1 1
LOC126860559, RFX3-DT 1 1
LOC126861684 1 1
LOC129388851, MAP4K3 1 1
LOC129388922, ZRANB3 1 1
LOC129389254 1 1
LOC129389678, LOC129389679, STXBP5 1 1
LOC129389846 1 1
LOC129390023, LRRC69 1 1
LOC129390167, LOC129390168, TMEM72 1 1
LOC129390335, LOC129390336, LOC129390337, LOC129390338, LOC129390339 1 1
LOC129390953 1 1
LOC129391229 1 1
LOC129937524 1 1
LOC129992059 1 1
LOC129993568, ZDHHC11 1 1
LOC130009965, LOC130009966 1 1
LOC130056269, LOC130056270, NRDE2 1 1
LOC130063346 1 1
LOC130065435, LOC130065436, LOC130065437, MACROD2 1 1
LOC132088901 1 1
LOC132089435, LOC132089436 1 1
LOC132089677 1 1
LOC132090284 1 1
LOC133206434, RHD, RSRP1 1 1
LRP1B 1 1
MAF 1 1
MCTP1 1 1
MED13 1 1
MGC4859 1 1
MIR3910-1, MIR3910-2 1 1
MNDA, OR6N1 1 1
MRGPRX1 1 1
MSR1 1 1
MYO1D 1 1
NAIP 1 1
NEDD4L 1 1
NEFL, NEFM 1 1
NRCAM 1 1
NRG3 1 1
NRXN1 1 1
OPRM1 1 1
OR4C12 1 1
OR4D10, OR4D6, OR5A1 1 1
OR4F15, OR4F6 1 1
PCDH15 1 1
PPP1R12A 1 1
PRKG1 1 1
PSG1, PSG11, PSG2, PSG4, PSG5, PSG6, PSG7 1 1
PSG1, PSG11, PSG2, PSG4, PSG5, PSG6, PSG7, PSG9 1 1
PSG1, PSG11, PSG6, PSG7 1 1
PSG1, PSG6, PSG7 1 1
PSG11, PSG4, PSG5 1 1
PTPRD 1 1
PWRN2 1 1
PWRN3 1 1
QRFPR 1 1
RLN1, RLN2 1 1
RTP5 1 1
SCARB1 1 1
SCYGR1, TM4SF20 1 1
SDK1 1 1
SFMBT1 1 1
SGCD 1 1
SLC15A5 1 1
SLC26A7 1 1
SLCO1B1 1 1
SNHG14, SNORD115-4, SNORD115-5, SNORD115-6, SNORD115-7, SNORD115-8 1 1
SNTG1 1 1
SOX11 1 1
SPATA45 1 1
SPINT4 1 1
STAG1 1 1
STXBP5 1 1
TAFA2 1 1
TCF7L2 1 1
TMEM231 1 1
TMTC2 1 1
TOP3B 1 1
TP53TG3, TP53TG3B, TP53TG3C 1 1
TP53TG3, TP53TG3B, TP53TG3C, TP53TG3D 1 1
TPTE 1 1
TRA 1 1
TRB 1 1
TRH-GTG2-1 1 1
TRIM72 1 1
TRPM3 1 1
TUSC3 1 1
URGCP, URGCP-MRPS24 1 1
VIPR2 1 1
VWDE 1 1
ZDHHC11 1 1
ZMYM2 1 1
ZNF385D 1 1
ZNF595, ZNF718 1 1
ZNF716 1 1
ZNF804B 1 1
ZSWIM5 1 1

Condition and significance breakdown #

Total conditions: 5
Download table as spreadsheet
Condition not provided total
Normal pregnancy 135 135
Gestational diabetes mellitus uncontrolled 83 83
Preeclampsia 83 83
Large for gestational age 71 71
Small for gestational age 61 61

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