ClinVar Miner

List of variants reported as pathogenic for Partial androgen insensitivity syndrome by OMIM

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000044.6(AR):c.2395C>G (p.Gln799Glu) rs137852591 0.00137
NM_000044.6(AR):c.1937C>A (p.Ala646Asp) rs1800053 0.00123
NM_000044.6(AR):c.1789G>A (p.Ala597Thr) rs137852569 0.00001
NM_000044.6(AR):c.1769-11T>A rs2147497386
NM_000044.6(AR):c.1823G>A (p.Arg608Gln) rs137852573
NM_000044.6(AR):c.2222C>G (p.Ser741Cys) rs137852601
NM_000044.6(AR):c.2231G>T (p.Gly744Val) rs137852600
NM_000044.6(AR):c.2291A>G (p.Tyr764Cys) rs137852567
NM_000044.6(AR):c.2423T>C (p.Met808Thr) rs137852592
NM_000044.6(AR):c.2449+5G>T rs1602278831
NM_000044.6(AR):c.2521C>T (p.Arg841Cys) rs137852577
NM_000044.6(AR):c.2522G>A (p.Arg841His) rs9332969
NM_000044.6(AR):c.2567G>A (p.Arg856His) rs9332971
NM_000044.6(AR):c.2599G>T (p.Val867Leu) rs137852564
NM_000044.6(AR):c.4G>A (p.Glu2Lys) rs104894742
NM_000044.6(AR):c.521T>G (p.Leu174Ter) rs137852590

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