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
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)
NM_000103.4(CYP19A1):c.383A>G (p.His128Arg)
NM_000135.4(FANCA):c.3665C>T (p.Pro1222Leu)
NM_000603.5(NOS3):c.172C>T (p.Pro58Ser)
NM_000603.5(NOS3):c.505G>A (p.Glu169Lys)
NM_000876.4(IGF2R):c.451C>T (p.His151Tyr)
NM_000941.3(POR):c.1588C>T (p.Pro530Ser)
NM_000949.7(PRLR):c.851T>G (p.Leu284Trp)
NM_001007792.1(NTRK1):c.2011G>A (p.Glu671Lys) rs747855434
NM_001036.5(RYR3):c.3092A>T (p.Lys1031Met) rs753104655
NM_001040108.2(MLH3):c.1387A>C (p.Ser463Arg)
NM_001080413.3(NOBOX):c.1440G>C (p.Lys480Asn)
NM_001134.3(AFP):c.1822G>A (p.Gly608Arg)
NM_001317056.1(ATG9B):c.1480G>T (p.Glu494Ter)
NM_001717.4(BNC1):c.2273C>T (p.Thr758Ile)
NM_001718.6(BMP6):c.409C>A (p.Leu137Met)
NM_002025.4(AFF2):c.3203C>G (p.Ser1068Trp)
NM_002253.3(KDR):c.724C>T (p.Leu242Phe) rs587778428
NM_002693.3(POLG):c.1685G>A (p.Arg562Gln)
NM_003246.4(THBS1):c.1060C>T (p.Pro354Ser)
NM_003579.4(RAD54L):c.1883A>C (p.Glu628Ala)
NM_003579.4(RAD54L):c.1900C>T (p.Arg634Cys)
NM_004991.4(MECOM):c.3019G>A (p.Gly1007Ser)
NM_006559.3(KHDRBS1):c.1262C>T (p.Pro421Leu)
NM_006988.5(ADAMTS1):c.1304C>A (p.Ser435Tyr)
NM_015503.2(SH2B1):c.1846T>C (p.Ser616Pro)
NM_016539.4(SIRT6):c.362G>A (p.Arg121His)
NM_021224.6(ZNF462):c.3515C>G (p.Pro1172Arg)
NM_021240.4(DMRT3):c.1327C>T (p.Pro443Ser)
NM_024408.4(NOTCH2):c.5105G>A (p.Arg1702Gln)
NM_024426.6(WT1):c.1021A>G (p.Ser341Gly)
NM_033656.4(BRWD1):c.656G>A (p.Arg219His)
NM_058216.3(RAD51C):c.1090A>G (p.Ser364Gly) rs587782565
NM_138815.4(DPPA2):c.833T>C (p.Leu278Ser)
NM_152756.5(RICTOR):c.1325A>G (p.His442Arg)
NM_197941.4(ADAMTS6):c.2840G>A (p.Arg947Gln)
NM_205860.3(NR5A2):c.681T>G (p.His227Gln)

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