ClinVar Miner

List of variants in gene AR studied for Partial androgen insensitivity syndrome

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000044.6(AR):c.1174C>T (p.Pro392Ser) rs201934623 0.00163
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.1616+22263G>A rs2147344557
NM_000044.6(AR):c.1762G>C (p.Ala588Pro) rs1034866440
NM_000044.6(AR):c.1768+2T>C rs1555982894
NM_000044.6(AR):c.1769-11T>A rs2147497386
NM_000044.6(AR):c.1823G>A (p.Arg608Gln) rs137852573
NM_000044.6(AR):c.2047C>T (p.Pro683Ser) rs2076094025
NM_000044.6(AR):c.2056G>C (p.Val686Leu) rs2147524833
NM_000044.6(AR):c.2078A>T (p.Asn693Ile) rs2147524940
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.2314A>C (p.Asn772His) rs886041352
NM_000044.6(AR):c.2317G>A (p.Glu773Lys)
NM_000044.6(AR):c.2339G>A (p.Arg780Gln)
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
NM_000044.6(AR):c.667G>A (p.Asp223Asn) rs1036966197

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