ClinVar Miner

List of variants in gene AR reported as likely benign for androgen insensitivity syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 243
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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.170T>A (p.Leu57Gln) rs78686797 0.00112
NM_000044.6(AR):c.1383C>T (p.Gly461=) rs768280979 0.00109
NM_000044.6(AR):c.1371C>T (p.Gly457=) rs747409696 0.00104
NM_000044.6(AR):c.134C>G (p.Ala45Gly) rs139767835 0.00025
NM_000044.6(AR):c.528C>A (p.Ser176Arg) rs777131133 0.00024
NM_000044.6(AR):c.1368T>C (p.Gly456=) rs866187574 0.00015
NM_000044.6(AR):c.1885+4A>T rs372585782 0.00004
NM_000044.6(AR):c.1651G>C (p.Asp551His) rs777461721 0.00002
NM_000044.6(AR):c.1125G>C (p.Pro375=) rs745883223 0.00001
NM_000044.6(AR):c.1380C>T (p.Gly460=) rs1264262764 0.00001
NM_000044.6(AR):c.1017T>C (p.Leu339=)
NM_000044.6(AR):c.1021C>T (p.Leu341=)
NM_000044.6(AR):c.1032C>T (p.Thr344=)
NM_000044.6(AR):c.1036T>C (p.Ser346Pro)
NM_000044.6(AR):c.1041C>G (p.Leu347=)
NM_000044.6(AR):c.1068A>T (p.Ala356=)
NM_000044.6(AR):c.1074G>C (p.Ala358=)
NM_000044.6(AR):c.1104A>G (p.Pro368=)
NM_000044.6(AR):c.1110T>C (p.Ala370=)
NM_000044.6(AR):c.1111C>T (p.Leu371=)
NM_000044.6(AR):c.1113G>A (p.Leu371=)
NM_000044.6(AR):c.1137G>A (p.Pro379=)
NM_000044.6(AR):c.1146T>C (p.His382=)
NM_000044.6(AR):c.1149C>G (p.Pro383=)
NM_000044.6(AR):c.1179G>A (p.Leu393=)
NM_000044.6(AR):c.1185C>T (p.Tyr395=)
NM_000044.6(AR):c.1191C>T (p.Ser397=)
NM_000044.6(AR):c.119G>A (p.Arg40Lys)
NM_000044.6(AR):c.1206G>T (p.Ala402=)
NM_000044.6(AR):c.1212G>A (p.Ala404=)
NM_000044.6(AR):c.1212G>C (p.Ala404=)
NM_000044.6(AR):c.1239C>T (p.Ser413=)
NM_000044.6(AR):c.1248C>A (p.Gly416=)
NM_000044.6(AR):c.1266C>T (p.Pro422=)
NM_000044.6(AR):c.1275G>C (p.Gly425=)
NM_000044.6(AR):c.1281C>T (p.Pro427=)
NM_000044.6(AR):c.1290C>T (p.Ala430=)
NM_000044.6(AR):c.1296C>G (p.Ser432=)
NM_000044.6(AR):c.1338G>A (p.Leu446=)
NM_000044.6(AR):c.1347G>C (p.Pro449=)
NM_000044.6(AR):c.1353T>C (p.Gly451=)
NM_000044.6(AR):c.1356T>C (p.Gly452=)
NM_000044.6(AR):c.1359T>C (p.Gly453=)
NM_000044.6(AR):c.1359T>G (p.Gly453=)
NM_000044.6(AR):c.1362G>C (p.Gly454=)
NM_000044.6(AR):c.1362G>T (p.Gly454=)
NM_000044.6(AR):c.1365T>C (p.Gly455=)
NM_000044.6(AR):c.1365T>G (p.Gly455=)
NM_000044.6(AR):c.1365TGG[1] (p.Gly473del)
NM_000044.6(AR):c.1370GCG[12] (p.Gly469_Gly473del) rs746853821
NM_000044.6(AR):c.1370GCG[15] (p.Gly472_Gly473del) rs746853821
NM_000044.6(AR):c.1370GCG[16] (p.Gly473del) rs746853821
NM_000044.6(AR):c.1370GCG[19] (p.Gly472_Gly473dup) rs746853821
NM_000044.6(AR):c.1371C>A (p.Gly457=)
NM_000044.6(AR):c.1374C>T (p.Gly458=)
NM_000044.6(AR):c.1377C>T (p.Gly459=)
NM_000044.6(AR):c.1386C>T (p.Gly462=)
NM_000044.6(AR):c.1389C>T (p.Gly463=)
NM_000044.6(AR):c.1392C>T (p.Gly464=)
NM_000044.6(AR):c.1395C>T (p.Gly465=)
NM_000044.6(AR):c.1398C>T (p.Gly466=)
NM_000044.6(AR):c.1401C>T (p.Gly467=)
NM_000044.6(AR):c.1407C>A (p.Gly469=)
NM_000044.6(AR):c.1407C>G (p.Gly469=)
NM_000044.6(AR):c.1413C>T (p.Gly471=)
NM_000044.6(AR):c.1416C>A (p.Gly472=)
NM_000044.6(AR):c.1416C>T (p.Gly472=)
NM_000044.6(AR):c.1419C>G (p.Gly473=)
NM_000044.6(AR):c.1422G>A (p.Glu474=)
NM_000044.6(AR):c.1467G>A (p.Gly489=)
NM_000044.6(AR):c.1467G>T (p.Gly489=)
NM_000044.6(AR):c.1503T>C (p.Asp501=)
NM_000044.6(AR):c.150C>T (p.Pro50=)
NM_000044.6(AR):c.1515T>C (p.Pro505=)
NM_000044.6(AR):c.1518C>G (p.Gly506=)
NM_000044.6(AR):c.1533A>G (p.Arg511=)
NM_000044.6(AR):c.1566C>T (p.Ser522=)
NM_000044.6(AR):c.1587T>C (p.Asp529=)
NM_000044.6(AR):c.1617-5T>C
NM_000044.6(AR):c.1617-8C>T
NM_000044.6(AR):c.161TGC[3] (p.Leu57del) rs752055010
NM_000044.6(AR):c.1635C>T (p.Asp545=)
NM_000044.6(AR):c.1642T>C (p.Leu548=)
NM_000044.6(AR):c.1674G>A (p.Lys558=)
NM_000044.6(AR):c.1686C>T (p.Ile562=)
NM_000044.6(AR):c.1707G>A (p.Gly569=)
NM_000044.6(AR):c.1722T>C (p.Ala574=)
NM_000044.6(AR):c.1731T>C (p.Cys577=)
NM_000044.6(AR):c.1768+14C>T
NM_000044.6(AR):c.1768+15A>C
NM_000044.6(AR):c.1768+15A>G
NM_000044.6(AR):c.1768+16C>T
NM_000044.6(AR):c.1768+17A>G
NM_000044.6(AR):c.1768+7G>A
NM_000044.6(AR):c.1769-15T>C
NM_000044.6(AR):c.1795A>C (p.Arg599=)
NM_000044.6(AR):c.1812T>C (p.Ile604=)
NM_000044.6(AR):c.1824A>C (p.Arg608=)
NM_000044.6(AR):c.1836T>C (p.Cys612=)
NM_000044.6(AR):c.1885+13T>A
NM_000044.6(AR):c.1885+13T>G
NM_000044.6(AR):c.1885+14C>A
NM_000044.6(AR):c.1885+14C>G
NM_000044.6(AR):c.1885+18_1885+21del
NM_000044.6(AR):c.1885+20C>T
NM_000044.6(AR):c.1885+8A>G
NM_000044.6(AR):c.1886-11C>A
NM_000044.6(AR):c.1886-12C>A
NM_000044.6(AR):c.1886-4A>G
NM_000044.6(AR):c.1890G>A (p.Arg630=)
NM_000044.6(AR):c.1920A>G (p.Leu640=)
NM_000044.6(AR):c.1947C>T (p.Thr649=)
NM_000044.6(AR):c.1959T>G (p.Thr653=)
NM_000044.6(AR):c.1977G>A (p.Lys659=)
NM_000044.6(AR):c.1980G>A (p.Leu660=)
NM_000044.6(AR):c.1986G>A (p.Val662=)
NM_000044.6(AR):c.2031C>T (p.Val677=)
NM_000044.6(AR):c.2061T>C (p.Cys687=)
NM_000044.6(AR):c.2082G>A (p.Gln694=)
NM_000044.6(AR):c.2097A>G (p.Ala699=)
NM_000044.6(AR):c.2106C>G (p.Leu702=)
NM_000044.6(AR):c.2115C>T (p.Leu705=)
NM_000044.6(AR):c.2142A>G (p.Val714=)
NM_000044.6(AR):c.2145C>T (p.His715=)
NM_000044.6(AR):c.2148G>A (p.Val716=)
NM_000044.6(AR):c.2173+12G>T
NM_000044.6(AR):c.2174-12C>G
NM_000044.6(AR):c.2174-13T>A
NM_000044.6(AR):c.2174-13TCT[2]
NM_000044.6(AR):c.2174-18C>A
NM_000044.6(AR):c.2211C>T (p.Val737=)
NM_000044.6(AR):c.2232G>T (p.Gly744=)
NM_000044.6(AR):c.2253C>T (p.Gly751=)
NM_000044.6(AR):c.2274C>T (p.Val758=)
NM_000044.6(AR):c.2289C>G (p.Leu763=)
NM_000044.6(AR):c.2289C>T (p.Leu763=)
NM_000044.6(AR):c.2310T>C (p.Val770=)
NM_000044.6(AR):c.2318+16G>A
NM_000044.6(AR):c.2318+18C>T
NM_000044.6(AR):c.2318+8C>T
NM_000044.6(AR):c.2319-11C>G
NM_000044.6(AR):c.2319-13A>G
NM_000044.6(AR):c.2319-13_2319-11dup
NM_000044.6(AR):c.2319-15G>T
NM_000044.6(AR):c.2319-18T>C
NM_000044.6(AR):c.2319-8C>T
NM_000044.6(AR):c.2322C>T (p.Tyr774=)
NM_000044.6(AR):c.2337C>G (p.Ser779=)
NM_000044.6(AR):c.2340G>T (p.Arg780=)
NM_000044.6(AR):c.2394C>A (p.Leu798=)
NM_000044.6(AR):c.2394C>T (p.Leu798=)
NM_000044.6(AR):c.2403C>G (p.Thr801=)
NM_000044.6(AR):c.2415C>T (p.Phe805=)
NM_000044.6(AR):c.2421C>T (p.Cys807=)
NM_000044.6(AR):c.2436A>G (p.Leu812=)
NM_000044.6(AR):c.2439C>G (p.Leu813=)
NM_000044.6(AR):c.2439C>T (p.Leu813=)
NM_000044.6(AR):c.2449+10T>G
NM_000044.6(AR):c.2449+17G>A
NM_000044.6(AR):c.2449+20G>T
NM_000044.6(AR):c.2449+8C>T
NM_000044.6(AR):c.2450-11T>A
NM_000044.6(AR):c.2450-19T>C
NM_000044.6(AR):c.2450-8C>T
NM_000044.6(AR):c.2460T>C (p.Asp820=)
NM_000044.6(AR):c.2464C>T (p.Leu822=)
NM_000044.6(AR):c.2481C>G (p.Phe827Leu)
NM_000044.6(AR):c.2490A>G (p.Glu830=)
NM_000044.6(AR):c.2493T>C (p.Leu831=)
NM_000044.6(AR):c.2511G>A (p.Lys837=)
NM_000044.6(AR):c.2571C>T (p.Phe857=)
NM_000044.6(AR):c.2592G>T (p.Leu864=)
NM_000044.6(AR):c.2598C>A (p.Ser866=)
NM_000044.6(AR):c.2598C>T (p.Ser866=)
NM_000044.6(AR):c.2607+11G>A
NM_000044.6(AR):c.2607+17G>C
NM_000044.6(AR):c.2607+17G>T
NM_000044.6(AR):c.2607+18G>A
NM_000044.6(AR):c.2607+19G>A
NM_000044.6(AR):c.2608-11G>T
NM_000044.6(AR):c.2608-14A>T
NM_000044.6(AR):c.2608-19C>A
NM_000044.6(AR):c.2608-7C>G
NM_000044.6(AR):c.2619G>A (p.Glu873=)
NM_000044.6(AR):c.2620C>T (p.Leu874=)
NM_000044.6(AR):c.2641C>T (p.Leu881=)
NM_000044.6(AR):c.2703T>C (p.Ser901=)
NM_000044.6(AR):c.2706G>A (p.Val902=)
NM_000044.6(AR):c.2721C>A (p.Ile907=)
NM_000044.6(AR):c.2736C>G (p.Val912=)
NM_000044.6(AR):c.2745C>T (p.Ile915=)
NM_000044.6(AR):c.2751C>T (p.Phe917=)
NM_000044.6(AR):c.2760G>A (p.Gln920=)
NM_000044.6(AR):c.2762G>A (p.Ter921=)
NM_000044.6(AR):c.291C>T (p.Pro97=)
NM_000044.6(AR):c.300T>C (p.His100=)
NM_000044.6(AR):c.312C>G (p.Pro104=)
NM_000044.6(AR):c.312C>T (p.Pro104=)
NM_000044.6(AR):c.333T>C (p.Asp111=)
NM_000044.6(AR):c.357G>A (p.Pro119=)
NM_000044.6(AR):c.360G>A (p.Gln120=)
NM_000044.6(AR):c.363G>A (p.Ser121=)
NM_000044.6(AR):c.381C>G (p.Pro127=)
NM_000044.6(AR):c.384G>A (p.Glu128=)
NM_000044.6(AR):c.393C>T (p.Cys131=)
NM_000044.6(AR):c.396C>T (p.Val132=)
NM_000044.6(AR):c.414C>T (p.Ala138=)
NM_000044.6(AR):c.420C>G (p.Ala140=)
NM_000044.6(AR):c.459G>A (p.Pro153=)
NM_000044.6(AR):c.459G>C (p.Pro153=)
NM_000044.6(AR):c.45G>T (p.Pro15=)
NM_000044.6(AR):c.496C>T (p.Leu166=)
NM_000044.6(AR):c.510T>C (p.Thr170=)
NM_000044.6(AR):c.51G>T (p.Lys17Asn)
NM_000044.6(AR):c.534C>T (p.Ser178=)
NM_000044.6(AR):c.593A>T (p.Gln198Leu)
NM_000044.6(AR):c.597G>A (p.Gln199=)
NM_000044.6(AR):c.606A>C (p.Val202=)
NM_000044.6(AR):c.609C>G (p.Ser203=)
NM_000044.6(AR):c.627G>T (p.Gly209=)
NM_000044.6(AR):c.633G>C (p.Ala211=)
NM_000044.6(AR):c.646G>C (p.Gly216Arg)
NM_000044.6(AR):c.690G>C (p.Ser230=)
NM_000044.6(AR):c.732G>A (p.Ser244=)
NM_000044.6(AR):c.732G>T (p.Ser244=)
NM_000044.6(AR):c.778G>A (p.Gly260Arg)
NM_000044.6(AR):c.795G>A (p.Gly265=)
NM_000044.6(AR):c.795G>T (p.Gly265=)
NM_000044.6(AR):c.828A>T (p.Pro276=)
NM_000044.6(AR):c.846T>G (p.Thr282=)
NM_000044.6(AR):c.855C>T (p.Ala285=)
NM_000044.6(AR):c.859T>C (p.Leu287=)
NM_000044.6(AR):c.864C>T (p.Ala288=)
NM_000044.6(AR):c.87C>T (p.Ser29=)
NM_000044.6(AR):c.882G>T (p.Leu294=)
NM_000044.6(AR):c.888C>T (p.Asp296=)
NM_000044.6(AR):c.894C>T (p.Ser298=)
NM_000044.6(AR):c.909T>C (p.Thr303=)
NM_000044.6(AR):c.914A>G (p.Asp305Gly)
NM_000044.6(AR):c.915T>C (p.Asp305=)
NM_000044.6(AR):c.921T>C (p.Ala307=)
NM_000044.6(AR):c.948C>T (p.Tyr316=)

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