ClinVar Miner

List of variants reported as likely benign for Kennedy disease

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 255
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.171GCA[14] (p.Gln72_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[18] (p.Gln76_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[32] (p.Gln72_Gln80dup) rs3032358
NM_000044.6(AR):c.171GCA[35] (p.Gln69_Gln80dup) rs3032358
NM_000044.6(AR):c.1722T>C (p.Ala574=)
NM_000044.6(AR):c.172_173insTGCAGCAGC (p.Leu57_Gln58insLeuGlnGln) rs1206863775
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.201G>A (p.Gln67=)
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.222G>A (p.Gln74=)
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.234G>A (p.Gln78=)
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.240A>G (p.Gln80=)
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.246T>C (p.Thr82=)
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.256CAG[7] (p.Gln91dup) rs753526329
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.261G>A (p.Gln87=)
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.273G>A (p.Gln91=)
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=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.