ClinVar Miner

List of variants in gene AR reported as pathogenic for Kennedy disease

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 97
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HGVS dbSNP gnomAD frequency
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.2612C>T (p.Ala871Val) rs143040492 0.00001
NM_000044.6(AR):c.2668G>A (p.Val890Met) rs886041133 0.00001
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
NM_000044.6(AR):c.1063G>T (p.Glu355Ter) rs367604031
NM_000044.6(AR):c.1150dup (p.His384fs)
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.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.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.1737del (p.Cys580fs) rs2147436590
NM_000044.6(AR):c.1756A>T (p.Arg586Ter)
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.1885+2T>G rs2147497993
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.2086G>A (p.Asp696Asn) rs1555995840
NM_000044.6(AR):c.2117A>G (p.Asn706Ser) rs925822435
NM_000044.6(AR):c.2128G>A (p.Glu710Lys) rs2076094436
NM_000044.6(AR):c.2156G>A (p.Trp719Ter)
NM_000044.6(AR):c.2162dup (p.Ala722fs)
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.2225G>A (p.Trp742Ter)
NM_000044.6(AR):c.2225G>T (p.Trp742Leu) rs2076118553
NM_000044.6(AR):c.2231G>T (p.Gly744Val) rs137852600
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.2268del (p.Asn757fs)
NM_000044.6(AR):c.2296G>A (p.Ala766Thr) rs1555996863
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.2359C>T (p.Arg787Ter) rs1555997580
NM_000044.6(AR):c.2391G>A (p.Trp797Ter) rs137852565
NM_000044.6(AR):c.2407del (p.Gln803fs)
NM_000044.6(AR):c.2450-6C>G rs754515125
NM_000044.6(AR):c.2491C>T (p.Leu831Phe)
NM_000044.6(AR):c.2495G>A (p.Arg832Gln) rs1386577803
NM_000044.6(AR):c.2505del (p.Asn834_Tyr835insTer)
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.2566C>T (p.Arg856Cys) rs886041132
NM_000044.6(AR):c.2567G>A (p.Arg856His) rs9332971
NM_000044.6(AR):c.2599G>A (p.Val867Met) rs137852564
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.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.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.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.749dup (p.Val251fs) rs1555969684
NM_000044.6(AR):c.756_765del (p.Glu252fs) rs1602144034
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.967G>T (p.Glu323Ter)

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