ClinVar Miner

Variants studied for Premature ovarian failure

Coded as:
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:

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 total
11 40 83 2 167 303

Gene and significance breakdown #

Total genes and gene combinations: 252
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
​intergenic 0 0 0 0 44 44
IGSF10 0 0 4 0 0 4
RYR3 0 1 2 0 0 3
CYP2E1, LOC110599585, LOC126861107, LOC129390242, LOC130005033, LOC130005034, LOC130005035, LOC130005036, SCART1, SYCE1 0 1 0 0 1 2
LRRC41, RAD54L 0 2 0 0 0 2
NOS3 0 2 0 0 0 2
AADAC, AADACL2 0 0 0 0 1 1
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, ZNHIT3 0 0 1 0 0 1
ABCC4 0 0 0 0 1 1
ACACB, UNG 0 0 0 0 1 1
ACAT1, CUL5, RAB39A, SLC35F2, SLN 0 0 0 0 1 1
ACKR3 0 0 1 0 0 1
ACSL4, AGTR2, AKAP14, ALG13, AMMECR1, AMOT, ARL13A, ARMCX1, ARMCX2, ARMCX3, ARMCX4, ARMCX5, ARMCX5-GPRASP2, ARMCX6, ATG4A, ATP1B4, BEX1, BEX2, BEX3, BEX4, BEX5, BTK, C1GALT1C1, CAPN6, CENPI, CHRDL1, CLDN2, COL4A5, COL4A6, CSTF2, CT47A1, CT47A10, CT47A11, CT47A12, CT47A2, CT47A3, CT47A4, CT47A5, CT47A6, CT47A7, CT47A8, CT47A9, CT47B1, CT83, CUL4B, DANT2, DCX, DNAAF6, DOCK11, DRP2, ESX1, FAM199X, FRMPD3, GLA, GLUD2, GPRASP1, GPRASP2, GPRASP3, GUCY2F, H2BW1, H2BW2, HNRNPH2, HTR2C, IL13RA1, IL13RA2, IL1RAPL2, IRS4, KCNE5, KIAA1210, KLHL13, LAMP2, LHFPL1, LONRF3, LRCH2, LUZP4, MCTS1, MID2, MIR448, MORC4, MORF4L2, NDUFA1, NKAP, NKRF, NOX1, NRK, NUP62CL, NXF2, NXF2B, NXF3, NXF5, NXT2, PAK3, PGRMC1, PLP1, PLS3, PRPS1, PSMD10, PWWP3B, RAB40A, RAB40AL, RAB9B, RADX, RBM41, RBMXL3, RHOXF1, RHOXF2, RHOXF2B, RIPPLY1, RNF113A, RNF128, RPL36A, RPL36A-HNRNPH2, RPL39, RTL4, RTL9, SEPTIN6, SERPINA7, SLC25A43, SLC25A5, SLC25A53, SLC6A14, SOWAHD, STEEP1, SYTL4, TAF7L, TBC1D8B, TCEAL1, TCEAL2, TCEAL3, TCEAL4, TCEAL5, TCEAL6, TCEAL7, TCEAL8, TCEAL9, TCP11X2, TEX13A, TEX13B, TIMM8A, TMEM164, TMEM255A, TMEM31, TMEM35A, TMSB15A, TMSB15B, TRMT2B, TRPC5, TRPC5OS, TSC22D3, UBE2A, UPF3B, VSIG1, WDR44, XKRX, ZBTB33, ZCCHC12, ZCCHC18, ZMAT1 1 0 0 0 0 1
ADAMTS1 0 1 0 0 0 1
ADAMTS5 0 0 1 0 0 1
ADAMTS6 0 1 0 0 0 1
ADAMTSL3, AP3B2, BNC1, BTBD1, C15orf40, CPEB1, FSD2, HOMER2, RAMAC, SCARNA15, SH3GL3, TM6SF1, WHAMM 0 1 0 0 0 1
ADCY5, SEC22A 0 0 1 0 0 1
ADORA2A, AIFM3, ARVCF, BCR, C22orf15, C22orf39, CABIN1, CCDC116, CDC45, CHCHD10, CLDN5, CLTCL1, COMT, CRKL, CRYBB2, CRYBB3, DDT, DDTL, DERL3, DGCR2, DGCR6, DGCR6L, DGCR8, DRICH1, ESS2, FAM230A, GGT1, GGT2, GGT5, GGTLC2, GGTLC3, GNAZ, GNB1L, GP1BB, GSC2, GSTT1, GSTT2, GSTT2B, GUCD1, HIC2, HIRA, IGLC1, IGLL1, IGLL5, KIAA1671, KLHL22, LHFPL7, LRRC75B, LZTR1, MAPK1, MED15, MIF, MIR130B, MMP11, MRPL40, P2RX6, PI4KA, PIWIL3, PPIL2, PPM1F, PRAME, PRODH, RAB36, RANBP1, RGL4, RIMBP3, RIMBP3B, RIMBP3C, RSPH14, RTL10, RTN4R, SCARF2, SDF2L1, SEPTIN5, SERPIND1, SGSM1, SLC25A1, SLC2A11, SLC7A4, SMARCB1, SNAP29, SNRPD3, SPECC1L, SUSD2, TANGO2, TBX1, THAP7, TMEM191B, TMEM191C, TOP3B, TRMT2A, TSSK2, TXNRD2, UBE2L3, UFD1, UPB1, USP41, VPREB1, VPREB3, YDJC, YPEL1, ZDHHC8, ZNF280A, ZNF280B, ZNF70, ZNF74 0 0 0 0 1 1
AFDN, FRMD1, KIF25 0 0 0 0 1 1
AFF2 0 1 0 0 0 1
AFP 0 1 0 0 0 1
AGAP10, ANXA8L1, NPY4R 0 0 0 0 1 1
AGBL4, AGBL4-IT1, BEND5, LOC129930503 0 0 1 0 0 1
AK3, CD274, CDC37L1, GLIS3, INSL4, INSL6, JAK2, MIR101-2, PDCD1LG2, PLGRKT, PLPP6, RCL1, RLN1, RLN2, SLC1A1, SPATA6L 0 0 0 0 1 1
ALMS1, LOC126806252, NAT8 1 0 0 0 0 1
AMACR, C1QTNF3, RAI14 0 0 1 0 0 1
AMY1A, AMY1B, AMY1C, AMY2A, AMY2B 0 0 0 0 1 1
ANKRD30B 0 0 0 0 1 1
ANKRD34A, ANKRD35, HJV, ITGA10, LIX1L, NBPF10, NOTCH2NLA, NUDT17, PDE4DIP, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TXNIP 0 0 0 0 1 1
ANKS1B, BLTP3B 0 0 0 0 1 1
AOPEP, FANCC 0 0 1 0 0 1
AOX1, BZW1, C2orf69, CLK1, FTCDNL1, HYCC2, KCTD18, MAIP1, NIF3L1, ORC2, PPIL3, SATB2, SGO2, SPATS2L, TYW5 0 0 1 0 0 1
APBA2, ENTREP2, GOLGA8M, NSMCE3, TJP1 0 0 0 0 1 1
APP, CYYR1 0 0 1 0 0 1
AR, OPHN1 0 0 1 0 0 1
ARFGAP3, LOC112695101, LOC112695102, LOC121627947, LOC121627948, LOC121853045, LOC125446250, LOC125446253, LOC130067617, LOC130067618, LOC130067619, LOC130067620, LOC130067621, LOC130067622, LOC130067623, LOC130067624, LOC130067625, LOC130067626, PACSIN2, TTLL1 0 0 1 0 0 1
ARPP21 0 0 0 0 1 1
ASAP1, CYRIB 0 0 0 0 1 1
ASB7, CERS3, LINS1 0 0 0 0 1 1
ASPHD1, CDIPT, KCTD13, KIF22, MAZ, MVP, PAGR1, PRRT2, SEZ6L2, TMEM219, ZG16 0 0 1 0 0 1
ASTN2, LOC107987014, LOC113839502, LOC126860747, LOC130002464, LOC130002465, LOC130002466, LOC132089661, LOC132089662, TRIM32 0 0 1 0 0 1
ATG2A 0 0 1 0 0 1
ATG7 0 0 1 0 0 1
ATG9B 0 1 0 0 0 1
B3GAT1-DT 0 0 0 0 1 1
B3GNT5, MCF2L2 0 0 1 0 0 1
BBS9 0 0 1 0 0 1
BCO1, PKD1L2 0 0 0 0 1 1
BICRA 0 0 0 0 1 1
BICRA, EHD2, LOC121627883, LOC125371540, LOC130064814, LOC130064815, LOC130064816, LOC130064817, LOC130064818, LOC130064819, LOC130064820, LOC130064821, LOC130064822, LOC130064823, LOC130064824, LOC130064825, LOC130064826, LOC130064827, LOC130064828, LOC130064829, LOC130064830, NOP53, SELENOW, SNORD23, ZNF541 0 0 1 0 0 1
BLK, C8orf74, CLDN23, CTSB, DEFB130A, DEFB134, DEFB135, DEFB136, ERI1, FAM167A, FAM86B1, FDFT1, GATA4, MFHAS1, MIR124-1, MSRA, MTMR9, NEIL2, PINX1, PPP1R3B, PRSS51, PRSS55, RP1L1, SLC35G5, SOX7, TNKS, USP17L2, USP17L7, XKR6, ZNF705D 1 0 0 0 0 1
BMAL1 0 0 1 0 0 1
BMP6 0 1 0 0 0 1
BNC1 0 1 0 0 0 1
BRD3 0 0 1 0 0 1
BRDT 1 0 0 0 0 1
BRWD1 0 1 0 0 0 1
C1QTNF6, IL2RB, SSTR3, TMPRSS6 0 0 1 0 0 1
C1QTNF9B, MIPEP, PCOTH, SACS, SGCG, SPATA13, TNFRSF19 0 0 0 0 1 1
C1orf87, CYP2J2, FGGY, HOOK1 0 0 1 0 0 1
C3 0 0 1 0 0 1
CADM2 0 0 0 0 1 1
CCDC115 0 0 0 0 1 1
CD99, GYG2, LOC126863189, XG 0 0 1 0 0 1
CDH19 0 0 0 0 1 1
CDRT15, CDRT4, COX10, HS3ST3B1, PMP22, TEKT3, TVP23C-CDRT4 0 0 1 0 0 1
CENPL, DARS2, GAS5, KLHL20, RC3H1, SERPINC1, ZBTB37 0 0 1 0 0 1
CENPP, LOC132089711, LOC132089712, NOL8, OGN, OMD 0 0 1 0 0 1
CFH, CFHR1, CFHR3, CFHR4, LOC122149335, LOC126805964 0 0 0 0 1 1
CFHR1, CFHR4 0 0 0 0 1 1
CGNL1 0 0 1 0 0 1
CHD7 0 0 0 0 1 1
CHEK2 1 0 0 0 0 1
CHL1, CNTN4, CNTN6 0 0 1 0 0 1
CHN2 0 0 0 0 1 1
CHRNA7 0 0 0 0 1 1
CHST11 0 0 1 0 0 1
CHST5, TMEM231 0 0 0 0 1 1
CHSY1, LOC125146369, LOC125146370, LOC130058064, LOC130058065, LOC130058066, LOC130058067, LOC130058068, LOC130058069, LOC130058070, LOC130058071, LOC130058072, LRRK1, SELENOS, SNRPA1 0 0 0 0 1 1
CLEC4C, NANOG, NANOGNB, SLC2A14 0 0 0 0 1 1
CLNK, ZNF518B 0 0 1 0 0 1
COL26A1 0 0 0 0 1 1
CSMD3, LOC126860474, MIR2053 0 0 1 0 0 1
CST4 0 0 0 0 1 1
CT45A1, CT55, INTS6L, ZNF449, ZNF75D 0 0 0 0 1 1
CTNNA3, LOC132089819 0 0 0 0 1 1
CYLC2 0 0 0 0 1 1
CYP17A1 0 1 0 0 0 1
CYP19A1, MIR4713HG, PIRC66 0 1 0 0 0 1
CYP2C19, LOC110599570, LOC111982881 0 0 0 0 1 1
DDX11 0 0 0 0 1 1
DDX53, LOC126863227, PTCHD1 0 0 0 0 1 1
DEFB134, DEFB135, DEFB136 0 0 0 0 1 1
DGCR2, DGCR6, PRODH 0 0 0 0 1 1
DGCR6L, FAM230A, GGTLC3, KLHL22, MED15, RIMBP3, RTN4R, SCARF2, TMEM191B, USP41, ZNF74 0 0 0 0 1 1
DLEU7, LOC121838575, LOC130009802, LOC130009803, LOC130009804, LOC130009805, LOC130009806, LOC130009807, LOC130009808 0 0 0 0 1 1
DMC1 0 0 0 0 1 1
DMD 0 0 0 0 1 1
DMRT3 0 1 0 0 0 1
DNAH11, SP4 0 0 1 0 0 1
DNAH6 0 0 1 0 0 1
DOC2B, LINC02091, LOC132090892, RPH3AL 0 0 1 0 0 1
DOCK8 0 0 0 0 1 1
DOCK8, FOXD4, ZNG1A 0 0 0 0 1 1
DPPA2 0 1 0 0 0 1
DPY19L2 0 0 0 0 1 1
DPY19L2, LOC130008194 0 0 0 0 1 1
EFL1, SAXO2 0 0 1 0 0 1
EHF 0 0 0 0 1 1
ERCC4 0 0 1 0 0 1
FAM120B, PDCD2, PSMB1, TBP 0 0 1 0 0 1
FANCA 0 1 0 0 0 1
FHIT 0 0 0 0 1 1
FIGLA 0 0 1 0 0 1
FMN2, LOC126806069 0 0 1 0 0 1
FPR2, FPR3, ZNF350, ZNF432, ZNF577, ZNF613, ZNF614, ZNF615, ZNF649, ZNF841 0 0 0 0 1 1
FYN 0 0 1 0 0 1
GALT 1 0 0 0 0 1
GDF9 0 0 1 0 0 1
GK2, NAA11 0 0 1 0 0 1
GLI1 0 0 1 0 0 1
GOLGA8B 0 0 0 0 1 1
GOLPH3, LOC126807344, PDZD2 0 0 0 0 1 1
GPR141 0 0 1 0 0 1
GPR17, LIMS2, MYO7B 0 0 0 0 1 1
GRAMD1C 0 0 0 0 1 1
GTF2H2C, LOC101928924, MARVELD2, OCLN, SNORD13B-1 0 0 0 0 1 1
HAPSTR1 0 0 0 0 1 1
HS6ST3, MIR4501 0 0 0 0 1 1
IGF2R 0 1 0 0 0 1
IGH, IGHA1, IGHD, IGHD3-3, IGHG1, IGHG3, IGHM, IGHV3-23 0 0 0 0 1 1
IMMP2L, LOC129389845 0 0 0 0 1 1
INHA 0 0 0 1 0 1
INSL6, JAK2 1 0 0 0 0 1
KANSL1 0 0 0 0 1 1
KCNIP3, MAL, MRPS5, PROM2, TEKT4, ZNF2, ZNF514 0 0 1 0 0 1
KCNN2 0 0 0 0 1 1
KCNQ5, KHDC1L, LOC113175017, LOC122539213, LOC126859710 0 0 1 0 0 1
KDR 0 1 0 0 0 1
KHDRBS1 0 1 0 0 0 1
LARS2 0 0 1 0 0 1
LEPR 0 0 1 0 0 1
LINC00871 0 0 0 0 1 1
LINC01237, LINC01238, LINC01880, LINC01881, LINC03100, LOC122889016, LOC132205954, LOC285097 0 0 0 0 1 1
LINC01541 0 0 0 0 1 1
LINC02018, LOC112935961, LOC129937069, LOC129937070, LOC129937071, LOC129937072, LOC129937073 0 0 0 0 1 1
LINC02055 0 0 0 0 1 1
LINC02374, LOC339975 0 0 0 0 1 1
LINC02714 0 0 0 0 1 1
LINC02743, SPATA19 0 0 0 0 1 1
LINC02907 0 0 0 0 1 1
LINGO2 0 0 0 0 1 1
LOC105379224, LOC124049159, LOC126860297, LOC129999814, LOC129999815, LOC129999816, LOC129999817, LOC129999818, LOC129999819 0 0 0 0 1 1
LOC106780824, LOC125424402, LOC130067127, LOC130067128, LOC130067129, LOC130067130, LOC130067131, LOC130067132, LOC130067133, LOC130067134, MIR6817 0 0 0 0 1 1
LOC110121330 0 0 0 0 1 1
LOC113687185 0 0 0 0 1 1
LOC116268429, LOC116268430, LOC116268431, LOC124625898, LOC126861438, LOC129390395, LOC130007317, LOC130007318, SLC2A14, SLC2A3 0 0 0 0 1 1
LOC116276448, LOC126862291 0 0 0 0 1 1
LOC122056898, MIR12132, PATJ 0 0 1 0 0 1
LOC122094904, LOC129931240, SYT6 0 0 0 0 1 1
LOC122756690 0 0 0 0 1 1
LOC122861256, OSBPL6 0 0 0 0 1 1
LOC125371453, LOC129391033, LOC130063167, ZFR2 0 0 1 0 0 1
LOC126805813 0 0 0 0 1 1
LOC126807223, SPATA4, WDR17 0 0 1 0 0 1
LOC126860076 0 0 0 0 1 1
LOC126861571 0 0 0 0 1 1
LOC126861930 0 0 0 0 1 1
LOC129390101, LOC129390102 0 0 0 0 1 1
LOC129390953 0 0 0 0 1 1
LOC129994273, LOC129994274, LOC129994275, LOC129994276 0 0 0 0 1 1
LOC129997635, LOC129997636, PRKN 0 0 0 0 1 1
LOC129997800, LOC129997801, LOC129997802, LOC129997803, LOC129997804, LOC129997805, LOC129997806, LOC129997807, LOC129997808, LOC129997809, SNX8 0 0 1 0 0 1
LOC130003769 0 0 0 0 1 1
LOC130065435, LOC130065436, MACROD2 0 0 0 0 1 1
LOC132089650, PTGR1, ZNF483 0 0 1 0 0 1
LOC132090156, MIR1267, NALF1 0 0 0 0 1 1
LOC132090486 0 0 0 0 1 1
LRP2 0 0 0 0 1 1
LSM14A 0 0 0 0 1 1
MAP3K4 0 0 0 0 1 1
MARCHF4, MREG, PECR, TMEM169, XRCC5 0 0 1 0 0 1
MCM9 0 0 0 1 0 1
MECOM 0 1 0 0 0 1
MLH3 0 1 0 0 0 1
MND1 0 1 0 0 0 1
MOV10 0 0 1 0 0 1
MRPS22 0 0 1 0 0 1
MSR1 0 0 0 0 1 1
MT1HL1, RYR2 0 0 1 0 0 1
MYC 0 0 1 0 0 1
NCAM2 0 0 0 0 1 1
NCKAP5 0 0 1 0 0 1
NLGN1 0 0 0 0 1 1
NOBOX 0 1 0 0 0 1
NOTCH2 0 1 0 0 0 1
NR5A2 0 1 0 0 0 1
NTRK1 0 1 0 0 0 1
OR4A15, OR4C11, OR4C15, OR4C16, OR4C6, OR4P4, OR4S2 0 0 0 0 1 1
OR4F15, OR4F6, TARS3 0 0 0 0 1 1
OR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3 0 0 0 0 1 1
OR8J1 0 0 0 0 1 1
PADI6 0 0 1 0 0 1
PARD3 0 0 1 0 0 1
PARP4 0 0 0 0 1 1
PFKP, PITRM1, SNORD142 0 0 0 0 1 1
PLD5 0 0 0 0 1 1
PMM2 1 0 0 0 0 1
PNPLA4, PUDP, STS, VCX 0 0 1 0 0 1
PNPLA7 0 0 1 0 0 1
POLG 0 1 0 0 0 1
POR 0 1 0 0 0 1
POTEB 0 0 0 0 1 1
PPP4R1, RALBP1 0 0 1 0 0 1
PRIM1 0 0 1 0 0 1
PRKD1 0 0 1 0 0 1
PRLR 0 1 0 0 0 1
PSG1, PSG11, PSG6, PSG7 0 0 0 0 1 1
PWRN2 0 0 0 0 1 1
RAB19, SLC37A3 0 0 1 0 0 1
RAD51C 0 1 0 0 0 1
RAD54L 1 0 0 0 0 1
REC8 0 0 1 0 0 1
REST 0 0 1 0 0 1
RICTOR 0 1 0 0 0 1
RIMS2 0 0 1 0 0 1
SCARB1 0 0 1 0 0 1
SEMA5A, TAS2R1 0 0 1 0 0 1
SFPQ, ZMYM1 0 0 1 0 0 1
SGO2 1 0 0 0 0 1
SH2B1 0 1 0 0 0 1
SIRT6 0 1 0 0 0 1
SLC24A2 0 0 0 0 1 1
STAG3 1 0 0 0 0 1
TCERG1L 0 0 0 0 1 1
TG 0 0 1 0 0 1
THBS1 0 1 0 0 0 1
TMEM132D 0 0 0 0 1 1
TOP3B 0 0 0 0 1 1
TRIML1, TRIML2, ZFP42 0 0 0 0 1 1
TSPAN7 0 0 0 0 1 1
UGT2B15 0 0 0 0 1 1
WHAMM 0 0 1 0 0 1
WT1 0 1 0 0 0 1
WWOX 0 0 0 0 1 1
XPNPEP2 0 0 1 0 0 1
ZNF462 0 1 0 0 0 1
ZNF626 0 0 0 0 1 1
ZNF630 0 0 0 0 1 1
ZNF716 0 0 0 0 1 1
ZNF92 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Department of Biotechnology, Institute of Molecular and Cell Biology, University of Tartu 3 2 50 0 165 220
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano 7 37 20 0 0 64
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 10 1 1 13
Rare Disease Group, Clinical Genetics, Karolinska Institutet 0 0 2 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 1 1 2
Illumina Laboratory Services, Illumina 0 0 1 0 0 1
Laboratory of Molecular Genetics, National Institutes of Health 1 0 0 0 0 1

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