ClinVar Miner

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

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 107
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000044.6(AR):c.1616+21621G>A rs1204038 0.36101
NM_000044.6(AR):c.639G>A (p.Glu213=) rs6152 0.28599
NM_000044.6(AR):c.2450-44G>A rs5031002 0.01476
NM_000044.6(AR):c.1029T>C (p.Ser343=) rs113983339 0.00467
NM_000044.6(AR):c.324G>C (p.Leu108=) rs147677446 0.00445
NM_000044.6(AR):c.1788C>T (p.Cys596=) rs150303722 0.00334
NM_000044.6(AR):c.1743G>A (p.Lys581=) rs6154 0.00327
NM_000044.6(AR):c.1139C>G (p.Pro380Arg) rs200510049 0.00194
NM_000044.6(AR):c.636G>A (p.Arg212=) rs150226204 0.00171
NM_000044.6(AR):c.1174C>T (p.Pro392Ser) rs201934623 0.00163
NM_000044.6(AR):c.2180G>T (p.Arg727Leu) rs137852593 0.00141
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.1960G>A (p.Glu654Lys) rs200737258 0.00116
NM_000044.6(AR):c.1536G>A (p.Val512=) rs150545747 0.00059
NM_000044.6(AR):c.1792A>G (p.Ser598Gly) rs142280455 0.00038
NM_000044.6(AR):c.1616+12C>T rs375988329 0.00032
NM_000044.6(AR):c.528C>A (p.Ser176Arg) rs777131133 0.00024
NM_000044.6(AR):c.2388A>G (p.Gly796=) rs756432037 0.00021
NM_000044.6(AR):c.1746C>T (p.Val582=) rs145171897 0.00019
NM_000044.6(AR):c.1644G>T (p.Leu548Phe) rs139524801 0.00018
NM_000044.6(AR):c.475G>A (p.Ala159Thr) rs370215797 0.00014
NM_000044.6(AR):c.814C>T (p.Leu272Phe) rs148972137 0.00013
NM_000044.6(AR):c.2607+20T>C rs561297300 0.00012
NM_000044.6(AR):c.1301C>T (p.Ser434Phe) rs748457992 0.00011
NM_000044.6(AR):c.2517C>T (p.Leu839=) rs6153 0.00009
NM_000044.6(AR):c.1063G>C (p.Glu355Gln) rs367604031 0.00004
NM_000044.6(AR):c.1723C>G (p.Leu575Val) rs376443652 0.00003
NM_000044.6(AR):c.2659A>G (p.Met887Val) rs755226547 0.00003
NM_000044.6(AR):c.2191G>A (p.Val731Met) rs137852571 0.00001
NM_000044.6(AR):c.1014A>C (p.Thr338=)
NM_000044.6(AR):c.1062C>G (p.Asp354Glu)
NM_000044.6(AR):c.1149C>T (p.Pro383=)
NM_000044.6(AR):c.1157G>A (p.Arg386His)
NM_000044.6(AR):c.1186G>C (p.Gly396Arg)
NM_000044.6(AR):c.1194C>T (p.Ala398=)
NM_000044.6(AR):c.1235C>A (p.Ala412Glu)
NM_000044.6(AR):c.1243C>T (p.His415Tyr)
NM_000044.6(AR):c.1323C>G (p.Ala441=)
NM_000044.6(AR):c.1365TGG[3] (p.Gly473_Glu474insGly)
NM_000044.6(AR):c.1370GCG[10] (p.Gly467_Gly473del) rs746853821
NM_000044.6(AR):c.1370GCG[11] (p.Gly468_Gly473del) rs746853821
NM_000044.6(AR):c.1370GCG[14] (p.Gly471_Gly473del) rs746853821
NM_000044.6(AR):c.1370GCG[18] (p.Gly473dup) rs746853821
NM_000044.6(AR):c.1370GCG[8] (p.Gly465_Gly473del) rs746853821
NM_000044.6(AR):c.1370GCG[9] (p.Gly466_Gly473del) rs746853821
NM_000044.6(AR):c.1370_1371insAGG (p.Gly473_Glu474insGly)
NM_000044.6(AR):c.1370_1371insTGGCGGCGG (p.Gly471_Gly473dup) rs760580125
NM_000044.6(AR):c.1370_1371insTGGCGGCGGCGG (p.Gly470_Gly473dup) rs760580125
NM_000044.6(AR):c.1443C>T (p.Tyr481=)
NM_000044.6(AR):c.1479G>A (p.Gln493=)
NM_000044.6(AR):c.1484G>A (p.Ser495Asn)
NM_000044.6(AR):c.1542T>C (p.Tyr514=)
NM_000044.6(AR):c.1617-13dup
NM_000044.6(AR):c.1617-19G>T
NM_000044.6(AR):c.1656T>C (p.Tyr552=)
NM_000044.6(AR):c.1675A>T (p.Thr559Ser)
NM_000044.6(AR):c.170AGC[7] (p.Leu56_Leu57insGlnGlnGlnGlnGlnGlnGln)
NM_000044.6(AR):c.1719A>G (p.Gly573=)
NM_000044.6(AR):c.1737C>T (p.Ser579=)
NM_000044.6(AR):c.1761C>T (p.Ala587=)
NM_000044.6(AR):c.1815T>C (p.Asp605=)
NM_000044.6(AR):c.1854G>A (p.Arg618=)
NM_000044.6(AR):c.1885+13T>C
NM_000044.6(AR):c.1886-10T>C
NM_000044.6(AR):c.1926G>A (p.Glu642=)
NM_000044.6(AR):c.2016C>A (p.Pro672=)
NM_000044.6(AR):c.2017A>G (p.Ile673Val)
NM_000044.6(AR):c.2052T>C (p.Gly684=)
NM_000044.6(AR):c.2070C>T (p.His690=)
NM_000044.6(AR):c.2073C>T (p.Asp691=)
NM_000044.6(AR):c.2085C>T (p.Pro695=)
NM_000044.6(AR):c.2106C>T (p.Leu702=)
NM_000044.6(AR):c.2179C>T (p.Arg727Cys)
NM_000044.6(AR):c.2190C>T (p.His730=)
NM_000044.6(AR):c.2196C>T (p.Asp732=)
NM_000044.6(AR):c.2295C>T (p.Phe765=)
NM_000044.6(AR):c.2318+7G>T
NM_000044.6(AR):c.2319-10T>C
NM_000044.6(AR):c.2319-17G>A
NM_000044.6(AR):c.2319-9C>T
NM_000044.6(AR):c.2403C>T (p.Thr801=)
NM_000044.6(AR):c.2406C>A (p.Pro802=)
NM_000044.6(AR):c.2481C>A (p.Phe827Leu)
NM_000044.6(AR):c.2526C>T (p.Ile842=)
NM_000044.6(AR):c.2580C>A (p.Leu860=)
NM_000044.6(AR):c.2607+10C>T
NM_000044.6(AR):c.2607+12A>G
NM_000044.6(AR):c.2608-17C>T
NM_000044.6(AR):c.2608-17_2608-16del rs749355366
NM_000044.6(AR):c.2608-6C>T
NM_000044.6(AR):c.2613G>A (p.Ala871=)
NM_000044.6(AR):c.2679G>A (p.Pro893=)
NM_000044.6(AR):c.302G>A (p.Arg101His)
NM_000044.6(AR):c.39G>A (p.Arg13=)
NM_000044.6(AR):c.414C>G (p.Ala138=)
NM_000044.6(AR):c.458C>T (p.Pro153Leu)
NM_000044.6(AR):c.45G>A (p.Pro15=)
NM_000044.6(AR):c.462C>T (p.Asp154=)
NM_000044.6(AR):c.519C>G (p.Gly173=)
NM_000044.6(AR):c.609C>A (p.Ser203=)
NM_000044.6(AR):c.621C>G (p.Ser207Arg)
NM_000044.6(AR):c.646G>A (p.Gly216Arg) rs199554641
NM_000044.6(AR):c.654C>T (p.Pro218=) rs751027309
NM_000044.6(AR):c.747G>A (p.Leu249=)
NM_000044.6(AR):c.807C>T (p.Tyr269=)
NM_000044.6(AR):c.986G>T (p.Gly329Val)

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.