ClinVar Miner

List of variants in gene AR reported as pathogenic for 46,XY disorder of sex development of gynecological interest

Included ClinVar conditions (14):
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Gene type:
ClinVar version:
Total variants: 95
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HGVS dbSNP
AR, IVS2AS, T-A, -11
AR, PARTIAL DEL
NC_000023.10:g.(?_66905852)_(66905968_?)del
NM_000044.3(AR):c.(2173+1_2174-1)_(2318+1_2319-1)del
NM_000044.3(AR):c.(2318+1_2319-1)_(2607+1_2608-1)del
NM_000044.6(AR):c.1174C>T (p.Pro392Ser) rs201934623
NM_000044.6(AR):c.1185C>A (p.Tyr395Ter) rs1555969807
NM_000044.6(AR):c.1310_1311CT[2] (p.Phe439fs)
NM_000044.6(AR):c.1440dup (p.Tyr481fs) rs1555970004
NM_000044.6(AR):c.1443C>G (p.Tyr481Ter) rs766161615
NM_000044.6(AR):c.1451_1454del (p.Thr484fs) rs1569265331
NM_000044.6(AR):c.1614dup (p.Arg539fs) rs1569265470
NM_000044.6(AR):c.1688G>A (p.Cys563Tyr) rs1555982860
NM_000044.6(AR):c.1722_1723TC[1] (p.Leu575fs)
NM_000044.6(AR):c.1732G>A (p.Gly578Arg) rs137852596
NM_000044.6(AR):c.1739G>A (p.Cys580Tyr) rs137852586
NM_000044.6(AR):c.1739G>T (p.Cys580Phe) rs137852586
NM_000044.6(AR):c.1748T>A (p.Phe583Tyr) rs137852587
NM_000044.6(AR):c.1768+2T>C rs1555982894
NM_000044.6(AR):c.1771A>T (p.Lys591Ter) rs137852566
NM_000044.6(AR):c.1789G>A (p.Ala597Thr) rs137852569
NM_000044.6(AR):c.1823G>A (p.Arg608Gln) rs137852573
NM_000044.6(AR):c.1846C>T (p.Arg616Cys) rs1555990485
NM_000044.6(AR):c.1847G>A (p.Arg616His) rs754201976
NM_000044.6(AR):c.1888del (p.Arg630fs) rs1555995750
NM_000044.6(AR):c.1897A>T (p.Lys633Ter)
NM_000044.6(AR):c.1937C>A (p.Ala646Asp) rs1800053
NM_000044.6(AR):c.2033T>C (p.Leu678Pro) rs137852579
NM_000044.6(AR):c.2044G>A (p.Glu682Lys) rs1555995816
NM_000044.6(AR):c.2069A>C (p.His690Pro) rs137852599
NM_000044.6(AR):c.2086G>A (p.Asp696Asn) rs1555995840
NM_000044.6(AR):c.2104C>T (p.Leu702Phe) rs1555995851
NM_000044.6(AR):c.2117A>G (p.Asn706Ser) rs925822435
NM_000044.6(AR):c.2123T>G (p.Leu708Arg) rs137852585
NM_000044.6(AR):c.2137C>T (p.Leu713Phe) rs137852595
NM_000044.6(AR):c.2155T>C (p.Trp719Arg) rs1555995865
NM_000044.6(AR):c.2157G>A (p.Trp719Ter) rs137852563
NM_000044.6(AR):c.2160del (p.Lys721fs)
NM_000044.6(AR):c.2171C>T (p.Pro724Leu) rs1555995877
NM_000044.6(AR):c.2176T>C (p.Phe726Leu) rs1555996810
NM_000044.6(AR):c.2222C>G (p.Ser741Cys) rs137852601
NM_000044.6(AR):c.2231G>A (p.Gly744Glu) rs137852600
NM_000044.6(AR):c.2231G>T (p.Gly744Val) rs137852600
NM_000044.6(AR):c.2257C>T (p.Arg753Ter) rs886039558
NM_000044.6(AR):c.2258G>A (p.Arg753Gln) rs1057523747
NM_000044.6(AR):c.2266del (p.Thr756fs) rs1555996855
NM_000044.6(AR):c.2281_2287delinsTTCGCCCCTGA (p.Arg761fs) rs869320732
NM_000044.6(AR):c.2291A>G (p.Tyr764Cys) rs137852567
NM_000044.6(AR):c.2296G>A (p.Ala766Thr) rs1555996863
NM_000044.6(AR):c.2299C>G (p.Pro767Ala) rs1555996867
NM_000044.6(AR):c.2318+1G>C rs1569314508
NM_000044.6(AR):c.2323C>T (p.Arg775Cys) rs137852562
NM_000044.6(AR):c.2324G>A (p.Arg775His) rs137852572
NM_000044.6(AR):c.2343G>A (p.Met781Ile) rs137852589
NM_000044.6(AR):c.2343G>T (p.Met781Ile) rs137852589
NM_000044.6(AR):c.2359C>T (p.Arg787Ter) rs1555997580
NM_000044.6(AR):c.2362A>G (p.Met788Val) rs137852570
NM_000044.6(AR):c.2391G>A (p.Trp797Ter) rs137852565
NM_000044.6(AR):c.2395C>G (p.Gln799Glu) rs137852591
NM_000044.6(AR):c.2423T>C (p.Met808Thr) rs137852592
NM_000044.6(AR):c.2437C>T (p.Leu813Phe) rs1555997625
NM_000044.6(AR):c.2449+5G>T
NM_000044.6(AR):c.2450-6C>G rs754515125
NM_000044.6(AR):c.2495G>A (p.Arg832Gln) rs1386577803
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.2528T>C (p.Ile843Thr)
NM_000044.6(AR):c.2546dup (p.Asn849fs)
NM_000044.6(AR):c.2562_2563del (p.Arg855fs) rs1555997799
NM_000044.6(AR):c.2566C>T (p.Arg856Cys) rs886041132
NM_000044.6(AR):c.2567G>A (p.Arg856His) rs9332971
NM_000044.6(AR):c.2571C>G (p.Phe857Leu) rs137852598
NM_000044.6(AR):c.2593G>A (p.Asp865Asn) rs1555997810
NM_000044.6(AR):c.2596T>C (p.Ser866Pro) rs137852597
NM_000044.6(AR):c.2599G>A (p.Val867Met) rs137852564
NM_000044.6(AR):c.2599G>T (p.Val867Leu) rs137852564
NM_000044.6(AR):c.2612C>T (p.Ala871Val) rs143040492
NM_000044.6(AR):c.2613del (p.Arg872fs) rs1555998085
NM_000044.6(AR):c.2650A>T (p.Lys884Ter) rs137852568
NM_000044.6(AR):c.2667C>T (p.Ser889=) rs137852594
NM_000044.6(AR):c.2668G>A (p.Val890Met) rs886041133
NM_000044.6(AR):c.2678C>T (p.Pro893Leu)
NM_000044.6(AR):c.2683_2685ATG[1] (p.Met896del) rs1555998102
NM_000044.6(AR):c.2720_2721del (p.Ile907fs) rs1555998114
NM_000044.6(AR):c.292C>T (p.Gln98Ter) rs1555969553
NM_000044.6(AR):c.321C>A (p.Tyr107Ter) rs1481151440
NM_000044.6(AR):c.475G>A (p.Ala159Thr) rs370215797
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.743G>T (p.Gly248Val) rs1555969682
NM_000044.6(AR):c.749dup (p.Val251fs) rs1555969684
NM_000044.6(AR):c.756_765del (p.Glu252fs)
NM_000044.6(AR):c.796dup (p.Asp266fs) rs1555969694
NM_000044.6(AR):c.830_845dup (p.Pro283fs) rs1569264288
NM_000044.6(AR):c.865G>T (p.Glu289Ter) rs750324117

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