ClinVar Miner

List of variants reported as likely pathogenic for Premature ovarian failure

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_001387430.1(SH2B1):c.1846T>C (p.Ser616Pro) rs142515048 0.00039
NM_003246.4(THBS1):c.1060C>T (p.Pro354Ser) rs142519614 0.00009
NM_001036.6(RYR3):c.3092A>T (p.Lys1031Met) rs753104655 0.00006
NM_000103.4(CYP19A1):c.383A>G (p.His128Arg) rs375975652 0.00005
NM_000135.4(FANCA):c.3665C>T (p.Pro1222Leu) rs374537936 0.00004
NM_001395413.1(POR):c.1579C>T (p.Pro527Ser) rs375387233 0.00004
NM_033656.4(BRWD1):c.656G>A (p.Arg219His) rs372595428 0.00004
NM_006988.5(ADAMTS1):c.1304C>A (p.Ser435Tyr) rs375553171 0.00003
NM_058216.3(RAD51C):c.1090A>G (p.Ser364Gly) rs587782565 0.00003
NM_000876.4(IGF2R):c.451C>T (p.His151Tyr) rs756631085 0.00002
NM_001134.3(AFP):c.1822G>A (p.Gly608Arg) rs146692547 0.00002
NM_001718.6(BMP6):c.409C>A (p.Leu137Met) rs747427445 0.00002
NM_003579.4(RAD54L):c.1900C>T (p.Arg634Cys) rs368491231 0.00002
NM_006559.3(KHDRBS1):c.1262C>T (p.Pro421Leu) rs750291697 0.00002
NM_016539.4(SIRT6):c.362G>A (p.Arg121His) rs771714154 0.00002
NM_000603.5(NOS3):c.505G>A (p.Glu169Lys) rs765854160 0.00001
NM_001080413.3(NOBOX):c.1440G>C (p.Lys480Asn) rs1006463439 0.00001
NM_002253.4(KDR):c.724C>T (p.Leu242Phe) rs587778428 0.00001
NM_002529.4(NTRK1):c.2119G>A (p.Glu707Lys) rs747855434 0.00001
NM_004991.4(MECOM):c.3019G>A (p.Gly1007Ser) rs767306816 0.00001
NM_021224.6(ZNF462):c.3515C>G (p.Pro1172Arg) rs1469441260 0.00001
NM_021240.4(DMRT3):c.1327C>T (p.Pro443Ser) rs764103256 0.00001
NM_024408.4(NOTCH2):c.5105G>A (p.Arg1702Gln) rs999822357 0.00001
NM_197941.4(ADAMTS6):c.2840G>A (p.Arg947Gln) rs1272612301 0.00001
GRCh37/hg19 15q25.2(chr15:83213963-84811815)x1
GRCh37/hg19 4q31.3(chr4:154316483-154325120)
GRCh38/hg38 10q26.3(chr10:133443259-133566207)x1
NM_000102.4(CYP17A1):c.644T>G (p.Val215Gly) rs1428700861
NM_000603.5(NOS3):c.172C>T (p.Pro58Ser) rs752309888
NM_000949.7(PRLR):c.851T>G (p.Leu284Trp) rs748942718
NM_001040108.2(MLH3):c.1387A>C (p.Ser463Arg) rs138974583
NM_001317056.2(ATG9B):c.1480G>T (p.Glu494Ter) rs996929151
NM_001717.4(BNC1):c.2273C>T (p.Thr758Ile) rs760137127
NM_002025.4(AFF2):c.3203C>G (p.Ser1068Trp) rs188208167
NM_002693.3(POLG):c.1685G>A (p.Arg562Gln) rs781168350
NM_003579.4(RAD54L):c.1883A>C (p.Glu628Ala) rs1660658865
NM_024426.6(WT1):c.1021A>G (p.Ser341Gly) rs1852103616
NM_138815.4(DPPA2):c.833T>C (p.Leu278Ser) rs1353278679
NM_152756.5(RICTOR):c.1325A>G (p.His442Arg) rs1329438711
NM_205860.3(NR5A2):c.681T>G (p.His227Gln) rs749896579

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