ClinVar Miner

List of variants reported as pathogenic for Premature ovarian failure

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_003579.4(RAD54L):c.1138C>T (p.Arg380Trp) rs150138364 0.00006
NM_000155.4(GALT):c.667C>T (p.Arg223Cys) rs111033750 0.00005
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser) rs200928781 0.00002
NM_000303.3(PMM2):c.323C>T (p.Ala108Val) rs200503569 0.00001
GRCh37/hg19 8p23.1(chr8:8131816-12249050)x1
GRCh37/hg19 Xq22.1-24(chrX:99931059-120328627)x1
GRCh38/hg38 2p13.1(chr2:73601366-73673202)x1
NM_001282717.2(STAG3):c.1069C>T (p.Arg357Ter) rs774733445
NM_004972.4(JAK2):c.436G>A (p.Asp146Asn) rs1299892808
NM_152524.6(SGO2):c.1453_1454del (p.Glu485fs) rs1057519602
NM_207189.4(BRDT):c.1538del (p.Asp513fs) rs1188709614

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