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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 171

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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.475G>A (p.Ala159Thr)	rs370215797	0.00014
NM_000044.6(AR):c.1789G>A (p.Ala597Thr)	rs137852569	0.00001
NM_000044.6(AR):c.1847G>A (p.Arg616His)	rs754201976	0.00001
NM_000044.6(AR):c.2157G>A (p.Trp719Ter)	rs137852563	0.00001
NM_000044.6(AR):c.2343G>A (p.Met781Ile)	rs137852589	0.00001
NM_000044.6(AR):c.2612C>T (p.Ala871Val)	rs143040492	0.00001
NM_000044.6(AR):c.2668G>A (p.Val890Met)	rs886041133	0.00001
AR, PARTIAL DEL
NC_000023.10:g.(66766605_66863097)_(66863250_66905851)del
NC_000023.10:g.(?_66788225)_(67021550_?)del
NC_000023.10:g.(?_66863078)_(66905988_?)dup
NC_000023.10:g.(?_66863078)_(66943703_?)del
NC_000023.10:g.(?_66905832)_(66905988_?)del
NC_000023.10:g.(?_66931224)_(66931551_?)del
NC_000023.10:g.(?_66941655)_(66943683_?)del
NC_000023.11:g.(?_67686010)_(67686126_?)del
NG_009014.2:g.(7732_?)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.1063G>T (p.Glu355Ter)	rs367604031
NM_000044.6(AR):c.1150dup (p.His384fs)
NM_000044.6(AR):c.1185C>A (p.Tyr395Ter)	rs1555969807
NM_000044.6(AR):c.1224T>A (p.Tyr408Ter)
NM_000044.6(AR):c.1314_1315del (p.Phe439fs)	rs1602144930
NM_000044.6(AR):c.1335del (p.Gln445fs)	rs1929749440
NM_000044.6(AR):c.1339_1342dup (p.Gly448fs)
NM_000044.6(AR):c.1440dup (p.Tyr481fs)	rs1555970004
NM_000044.6(AR):c.1443C>A (p.Tyr481Ter)	rs766161615
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.1460del (p.Pro487fs)	rs1929773822
NM_000044.6(AR):c.1477C>T (p.Gln493Ter)	rs2147322621
NM_000044.6(AR):c.1531A>T (p.Arg511Ter)
NM_000044.6(AR):c.1567G>T (p.Glu523Ter)	rs2147323184
NM_000044.6(AR):c.1605C>G (p.Tyr535Ter)
NM_000044.6(AR):c.1605del (p.Pro534_Tyr535insTer)
NM_000044.6(AR):c.1614dup (p.Arg539fs)	rs1569265470
NM_000044.6(AR):c.161TGC[5] (p.Leu57dup)	rs752055010
NM_000044.6(AR):c.1688G>A (p.Cys563Tyr)	rs1555982860
NM_000044.6(AR):c.1707del (p.Cys570fs)	rs2147436378
NM_000044.6(AR):c.1715A>G (p.Tyr572Cys)	rs1925886715
NM_000044.6(AR):c.1724_1725del (p.Leu575fs)	rs1602220874
NM_000044.6(AR):c.1732G>A (p.Gly578Arg)	rs137852596
NM_000044.6(AR):c.1737del (p.Cys580fs)	rs2147436590
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.1756A>T (p.Arg586Ter)
NM_000044.6(AR):c.1768+2T>C	rs1555982894
NM_000044.6(AR):c.1769-11T>A	rs2147497386
NM_000044.6(AR):c.1771A>T (p.Lys591Ter)	rs137852566
NM_000044.6(AR):c.1822C>T (p.Arg608Ter)	rs886041128
NM_000044.6(AR):c.1823G>A (p.Arg608Gln)	rs137852573
NM_000044.6(AR):c.1844del (p.Cys615fs)
NM_000044.6(AR):c.1846C>T (p.Arg616Cys)	rs1555990485
NM_000044.6(AR):c.1885+2T>G	rs2147497993
NM_000044.6(AR):c.1888del (p.Arg630fs)	rs1555995750
NM_000044.6(AR):c.1897A>T (p.Lys633Ter)	rs1602272308
NM_000044.6(AR):c.1972C>T (p.Gln658Ter)
NM_000044.6(AR):c.1A>T (p.Met1Leu)	rs2147313671
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.2126G>A (p.Gly709Glu)	rs2147525149
NM_000044.6(AR):c.2128G>A (p.Glu710Lys)	rs2076094436
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.2156G>A (p.Trp719Ter)
NM_000044.6(AR):c.2160del (p.Lys721fs)	rs1602272697
NM_000044.6(AR):c.2162dup (p.Ala722fs)
NM_000044.6(AR):c.2170C>T (p.Pro724Ser)	rs2147525357
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.2191_2199del (p.Val731_Asp733del)
NM_000044.6(AR):c.2197G>A (p.Asp733Asn)	rs2147530668
NM_000044.6(AR):c.2220C>G (p.Tyr740Ter)
NM_000044.6(AR):c.2222C>G (p.Ser741Cys)	rs137852601
NM_000044.6(AR):c.2225G>A (p.Trp742Ter)
NM_000044.6(AR):c.2225G>T (p.Trp742Leu)	rs2076118553
NM_000044.6(AR):c.2226G>A (p.Trp742Ter)	rs2147530793
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.2237T>C (p.Met746Thr)	rs2147530857
NM_000044.6(AR):c.2248A>G (p.Met750Val)	rs1085307685
NM_000044.6(AR):c.2255G>A (p.Trp752Ter)	rs2147530924
NM_000044.6(AR):c.2256G>A (p.Trp752Ter)
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.2268del (p.Asn757fs)
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.2301del (p.Asp768fs)	rs886041131
NM_000044.6(AR):c.2318+1G>C	rs1569314508
NM_000044.6(AR):c.2319-1G>C
NM_000044.6(AR):c.2319_2321dup (p.Tyr774Ter)	rs2147535489
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.2338C>T (p.Arg780Trp)	rs2076137289
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.2407del (p.Gln803fs)
NM_000044.6(AR):c.2407dup (p.Gln803fs)	rs2147535891
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	rs1602278831
NM_000044.6(AR):c.2450-6C>G	rs754515125
NM_000044.6(AR):c.2484T>A (p.Phe828Leu)
NM_000044.6(AR):c.2491C>T (p.Leu831Phe)
NM_000044.6(AR):c.2494C>G (p.Arg832Gly)	rs2147537840
NM_000044.6(AR):c.2495G>A (p.Arg832Gln)	rs1386577803
NM_000044.6(AR):c.2505C>G (p.Tyr835Ter)	rs2147537887
NM_000044.6(AR):c.2505del (p.Asn834_Tyr835insTer)
NM_000044.6(AR):c.2507T>G (p.Ile836Ser)	rs2076141961
NM_000044.6(AR):c.2512G>T (p.Glu838Ter)	rs1555997775
NM_000044.6(AR):c.2515C>A (p.Leu839Ile)	rs2147537918
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)	rs9332970
NM_000044.6(AR):c.2546dup (p.Asn849fs)	rs1602279488
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.2607+2T>G	rs2147538369
NM_000044.6(AR):c.2613del (p.Arg872fs)	rs1555998085
NM_000044.6(AR):c.2650A>T (p.Lys884Ter)	rs137852568
NM_000044.6(AR):c.2657A>T (p.His886Leu)	rs2147540378
NM_000044.6(AR):c.2667C>T (p.Ser889=)	rs137852594
NM_000044.6(AR):c.2677C>T (p.Pro893Ser)
NM_000044.6(AR):c.2678C>T (p.Pro893Leu)	rs1602280356
NM_000044.6(AR):c.2683ATG[1] (p.Met896del)	rs1555998102
NM_000044.6(AR):c.2710G>T (p.Val904Leu)	rs2147540656
NM_000044.6(AR):c.2720_2721del (p.Ile907fs)	rs1555998114
NM_000044.6(AR):c.2750del (p.Phe917fs)	rs2147540838
NM_000044.6(AR):c.292C>T (p.Gln98Ter)	rs1555969553
NM_000044.6(AR):c.304A>T (p.Arg102Ter)
NM_000044.6(AR):c.321C>A (p.Tyr107Ter)	rs1481151440
NM_000044.6(AR):c.329_333del (p.Leu110fs)
NM_000044.6(AR):c.344_345insCAGATGAGGAACAGCA (p.Gln115delinsHisArgTer)
NM_000044.6(AR):c.358C>T (p.Gln120Ter)	rs1929683441
NM_000044.6(AR):c.463G>T (p.Glu155Ter)	rs764126853
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.546dup (p.Asp183fs)
NM_000044.6(AR):c.559G>T (p.Glu187Ter)
NM_000044.6(AR):c.733del (p.Val245fs)
NM_000044.6(AR):c.743G>T (p.Gly248Val)	rs1555969682
NM_000044.6(AR):c.749dup (p.Val251fs)	rs1555969684
NM_000044.6(AR):c.754G>T (p.Glu252Ter)
NM_000044.6(AR):c.756_765del (p.Glu252fs)	rs1602144034
NM_000044.6(AR):c.796dup (p.Asp266fs)	rs1555969694
NM_000044.6(AR):c.829_833dup (p.Val279fs)	rs2147318663
NM_000044.6(AR):c.830_845dup (p.Pro283fs)	rs1569264288
NM_000044.6(AR):c.865G>T (p.Glu289Ter)	rs750324117
NM_000044.6(AR):c.967G>T (p.Glu323Ter)

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