ClinVar Miner

List of variants studied for androgen insensitivity syndrome by Invitae

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 577
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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.170T>A (p.Leu57Gln) rs78686797 0.00112
NM_000044.6(AR):c.1424C>T (p.Ala475Val) rs200390780 0.00110
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.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.134C>G (p.Ala45Gly) rs139767835 0.00025
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.1368T>C (p.Gly456=) rs866187574 0.00015
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.188A>T (p.Gln63Leu) rs62636527 0.00006
NM_000044.6(AR):c.1063G>C (p.Glu355Gln) rs367604031 0.00004
NM_000044.6(AR):c.1885+4A>T rs372585782 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.1651G>C (p.Asp551His) rs777461721 0.00002
NM_000044.6(AR):c.7G>A (p.Val3Met) rs778912582 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.1789G>A (p.Ala597Thr) rs137852569 0.00001
NM_000044.6(AR):c.1847G>A (p.Arg616His) rs754201976 0.00001
NM_000044.6(AR):c.1889G>A (p.Arg630Gln) rs868669253 0.00001
NM_000044.6(AR):c.2191G>A (p.Val731Met) rs137852571 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.1014A>C (p.Thr338=)
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.1040T>G (p.Leu347Arg)
NM_000044.6(AR):c.1041C>G (p.Leu347=)
NM_000044.6(AR):c.1062C>G (p.Asp354Glu)
NM_000044.6(AR):c.1063G>T (p.Glu355Ter) rs367604031
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.1106T>C (p.Leu369Pro)
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.1123C>T (p.Pro375Ser)
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.1149C>T (p.Pro383=)
NM_000044.6(AR):c.1150dup (p.His384fs)
NM_000044.6(AR):c.1157G>A (p.Arg386His)
NM_000044.6(AR):c.1179G>A (p.Leu393=)
NM_000044.6(AR):c.1185C>T (p.Tyr395=)
NM_000044.6(AR):c.1186G>C (p.Gly396Arg)
NM_000044.6(AR):c.1191C>T (p.Ser397=)
NM_000044.6(AR):c.1194C>T (p.Ala398=)
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.1224T>A (p.Tyr408Ter)
NM_000044.6(AR):c.1235C>A (p.Ala412Glu)
NM_000044.6(AR):c.1239C>T (p.Ser413=)
NM_000044.6(AR):c.1243C>T (p.His415Tyr)
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.1314_1315del (p.Phe439fs) rs1602144930
NM_000044.6(AR):c.1323C>G (p.Ala441=)
NM_000044.6(AR):c.1325A>T (p.Glu442Val)
NM_000044.6(AR):c.1335del (p.Gln445fs) rs1929749440
NM_000044.6(AR):c.1338G>A (p.Leu446=)
NM_000044.6(AR):c.1339_1342dup (p.Gly448fs)
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.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[12] (p.Gly469_Gly473del) rs746853821
NM_000044.6(AR):c.1370GCG[14] (p.Gly471_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[18] (p.Gly473dup) rs746853821
NM_000044.6(AR):c.1370GCG[19] (p.Gly472_Gly473dup) rs746853821
NM_000044.6(AR):c.1370GCG[6] (p.Gly463_Gly473del) 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.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.1419_1421del (p.Glu474del) rs1929768492
NM_000044.6(AR):c.1422G>A (p.Glu474=)
NM_000044.6(AR):c.1440dup (p.Tyr481fs) rs1555970004
NM_000044.6(AR):c.1442A>G (p.Tyr481Cys) rs1555970006
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.1443C>T (p.Tyr481=)
NM_000044.6(AR):c.1451_1454del (p.Thr484fs) rs1569265331
NM_000044.6(AR):c.1460del (p.Pro487fs) rs1929773822
NM_000044.6(AR):c.1467G>A (p.Gly489=)
NM_000044.6(AR):c.1467G>T (p.Gly489=)
NM_000044.6(AR):c.1477C>T (p.Gln493Ter) rs2147322621
NM_000044.6(AR):c.1479G>A (p.Gln493=)
NM_000044.6(AR):c.1484G>A (p.Ser495Asn)
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.1542T>C (p.Tyr514=)
NM_000044.6(AR):c.1566C>T (p.Ser522=)
NM_000044.6(AR):c.1587T>C (p.Asp529=)
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.1617-13dup
NM_000044.6(AR):c.1617-19G>T
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.161TGC[5] (p.Leu57dup) rs752055010
NM_000044.6(AR):c.1635C>T (p.Asp545=)
NM_000044.6(AR):c.1642T>C (p.Leu548=)
NM_000044.6(AR):c.1656T>C (p.Tyr552=)
NM_000044.6(AR):c.1674G>A (p.Lys558=)
NM_000044.6(AR):c.1675A>T (p.Thr559Ser)
NM_000044.6(AR):c.1686C>T (p.Ile562=)
NM_000044.6(AR):c.1687T>C (p.Cys563Arg)
NM_000044.6(AR):c.1704_1705delinsCT (p.Gly569Trp) rs1925886368
NM_000044.6(AR):c.1705G>T (p.Gly569Trp) rs1555982864
NM_000044.6(AR):c.1707G>A (p.Gly569=)
NM_000044.6(AR):c.1707del (p.Cys570fs) rs2147436378
NM_000044.6(AR):c.170AGC[7] (p.Leu56_Leu57insGlnGlnGlnGlnGlnGlnGln)
NM_000044.6(AR):c.170AGC[8] (p.Leu56_Leu57insGlnGlnGlnGlnGlnGlnGlnGln) rs755686403
NM_000044.6(AR):c.1714T>G (p.Tyr572Asp)
NM_000044.6(AR):c.1715A>G (p.Tyr572Cys) rs1925886715
NM_000044.6(AR):c.1715A>T (p.Tyr572Phe) rs1925886715
NM_000044.6(AR):c.1719A>G (p.Gly573=)
NM_000044.6(AR):c.171GCA[11] (p.Gln69_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[13] (p.Gln71_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[15] (p.Gln73_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[16] (p.Gln74_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[17] (p.Gln75_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[18] (p.Gln76_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[19] (p.Gln77_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[20] (p.Gln78_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[21] (p.Gln79_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[24] (p.Gln80dup) rs3032358
NM_000044.6(AR):c.171GCA[25] (p.Gln79_Gln80dup) rs3032358
NM_000044.6(AR):c.171GCA[27] (p.Gln77_Gln80dup) rs3032358
NM_000044.6(AR):c.171GCA[28] (p.Gln76_Gln80dup) rs3032358
NM_000044.6(AR):c.171GCA[30] (p.Gln74_Gln80dup) rs3032358
NM_000044.6(AR):c.171GCA[31] (p.Gln73_Gln80dup) rs3032358
NM_000044.6(AR):c.171GCA[32] (p.Gln72_Gln80dup) rs3032358
NM_000044.6(AR):c.1722T>C (p.Ala574=)
NM_000044.6(AR):c.1724_1725del (p.Leu575fs) rs1602220874
NM_000044.6(AR):c.172_173insTGCAGCAGC (p.Leu57_Gln58insLeuGlnGln) rs1206863775
NM_000044.6(AR):c.172_173insTGCAGCAGCAGCAGC (p.Leu57_Gln58insLeuGlnGlnGlnGln)
NM_000044.6(AR):c.172_173insTGCAGCAGCAGCAGCAGCAGC (p.Leu57_Gln58insLeuGlnGlnGlnGlnGlnGln) rs1206863775
NM_000044.6(AR):c.1731T>C (p.Cys577=)
NM_000044.6(AR):c.1736G>C (p.Ser579Thr) rs1555982879
NM_000044.6(AR):c.1737C>T (p.Ser579=)
NM_000044.6(AR):c.1737del (p.Cys580fs) rs2147436590
NM_000044.6(AR):c.1738T>A (p.Cys580Ser) rs2147436595
NM_000044.6(AR):c.1743G>C (p.Lys581Asn)
NM_000044.6(AR):c.1745T>A (p.Val582Asp)
NM_000044.6(AR):c.174_175insTAG (p.Gln59Ter) rs1602143232
NM_000044.6(AR):c.1756A>T (p.Arg586Ter)
NM_000044.6(AR):c.1761C>T (p.Ala587=)
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+3A>G rs2147436767
NM_000044.6(AR):c.1768+7G>A
NM_000044.6(AR):c.1769-13T>G
NM_000044.6(AR):c.1769-15T>C
NM_000044.6(AR):c.1793G>C (p.Ser598Thr) rs2075964628
NM_000044.6(AR):c.1795A>C (p.Arg599=)
NM_000044.6(AR):c.1805G>A (p.Cys602Tyr) rs1555990470
NM_000044.6(AR):c.1812T>C (p.Ile604=)
NM_000044.6(AR):c.1814A>G (p.Asp605Gly) rs1555990478
NM_000044.6(AR):c.1815T>C (p.Asp605=)
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.1824A>C (p.Arg608=)
NM_000044.6(AR):c.1836T>C (p.Cys612=)
NM_000044.6(AR):c.183_184insTAG (p.Gln62Ter) rs1929660142
NM_000044.6(AR):c.1844G>C (p.Cys615Ser) rs1602255415
NM_000044.6(AR):c.1844del (p.Cys615fs)
NM_000044.6(AR):c.1850T>C (p.Leu617Pro) rs1555990488
NM_000044.6(AR):c.1854G>A (p.Arg618=)
NM_000044.6(AR):c.1859G>A (p.Cys620Tyr) rs1312745277
NM_000044.6(AR):c.187C>T (p.Gln63Ter)
NM_000044.6(AR):c.1885+13T>A
NM_000044.6(AR):c.1885+13T>C
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+2T>G rs2147497993
NM_000044.6(AR):c.1885+8A>G
NM_000044.6(AR):c.1886-10T>C
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.1897A>T (p.Lys633Ter) rs1602272308
NM_000044.6(AR):c.190C>T (p.Gln64Ter)
NM_000044.6(AR):c.1920A>G (p.Leu640=)
NM_000044.6(AR):c.1926G>A (p.Glu642=)
NM_000044.6(AR):c.1947C>T (p.Thr649=)
NM_000044.6(AR):c.1959T>G (p.Thr653=)
NM_000044.6(AR):c.195_199delinsTT (p.Gln65_Gln67delinsHisTer) rs1569263557
NM_000044.6(AR):c.1972C>T (p.Gln658Ter)
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.1994T>C (p.Ile665Thr) rs9332968
NM_000044.6(AR):c.1A>T (p.Met1Leu) rs2147313671
NM_000044.6(AR):c.2016C>A (p.Pro672=)
NM_000044.6(AR):c.2017A>G (p.Ile673Val)
NM_000044.6(AR):c.201G>A (p.Gln67=)
NM_000044.6(AR):c.2021T>C (p.Phe674Ser) rs1602272541
NM_000044.6(AR):c.2031C>T (p.Val677=)
NM_000044.6(AR):c.2037A>C (p.Glu679Asp) rs2076093959
NM_000044.6(AR):c.2039C>G (p.Ala680Gly)
NM_000044.6(AR):c.2042T>C (p.Ile681Thr)
NM_000044.6(AR):c.2047C>T (p.Pro683Ser) rs2076094025
NM_000044.6(AR):c.2052T>C (p.Gly684=)
NM_000044.6(AR):c.2053G>A (p.Val685Ile) rs1555995822
NM_000044.6(AR):c.2061T>C (p.Cys687=)
NM_000044.6(AR):c.2068C>A (p.His690Asn) rs1602272594
NM_000044.6(AR):c.2070C>G (p.His690Gln) rs754583155
NM_000044.6(AR):c.2070C>T (p.His690=)
NM_000044.6(AR):c.2073C>T (p.Asp691=)
NM_000044.6(AR):c.2082G>A (p.Gln694=)
NM_000044.6(AR):c.2085C>T (p.Pro695=)
NM_000044.6(AR):c.2086G>A (p.Asp696Asn) rs1555995840
NM_000044.6(AR):c.2087A>T (p.Asp696Val)
NM_000044.6(AR):c.2097A>G (p.Ala699=)
NM_000044.6(AR):c.2103G>T (p.Leu701Phe) rs1555995848
NM_000044.6(AR):c.2106C>G (p.Leu702=)
NM_000044.6(AR):c.2106C>T (p.Leu702=)
NM_000044.6(AR):c.2115C>T (p.Leu705=)
NM_000044.6(AR):c.2117A>G (p.Asn706Ser) rs925822435
NM_000044.6(AR):c.2121A>C (p.Glu707Asp) rs1555995856
NM_000044.6(AR):c.2125G>A (p.Gly709Arg) rs2076094418
NM_000044.6(AR):c.2126G>T (p.Gly709Val) rs2147525149
NM_000044.6(AR):c.2128G>A (p.Glu710Lys) rs2076094436
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.2156G>A (p.Trp719Ter)
NM_000044.6(AR):c.2159C>T (p.Ala720Val) rs2076094679
NM_000044.6(AR):c.2162dup (p.Ala722fs)
NM_000044.6(AR):c.2164G>A (p.Ala722Thr) rs137852583
NM_000044.6(AR):c.2169G>T (p.Leu723Phe)
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.2174-2A>G
NM_000044.6(AR):c.2176T>C (p.Phe726Leu) rs1555996810
NM_000044.6(AR):c.2179C>T (p.Arg727Cys)
NM_000044.6(AR):c.2180G>A (p.Arg727His)
NM_000044.6(AR):c.2186T>C (p.Leu729Ser)
NM_000044.6(AR):c.2190C>T (p.His730=)
NM_000044.6(AR):c.2191_2199del (p.Val731_Asp733del)
NM_000044.6(AR):c.2196C>T (p.Asp732=)
NM_000044.6(AR):c.2197G>A (p.Asp733Asn) rs2147530668
NM_000044.6(AR):c.2211C>T (p.Val737=)
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.222G>A (p.Gln74=)
NM_000044.6(AR):c.2231G>T (p.Gly744Val) rs137852600
NM_000044.6(AR):c.2232G>T (p.Gly744=)
NM_000044.6(AR):c.2233C>T (p.Leu745Phe)
NM_000044.6(AR):c.2236A>T (p.Met746Leu) rs2076118643
NM_000044.6(AR):c.2237T>C (p.Met746Thr) rs2147530857
NM_000044.6(AR):c.2239G>A (p.Val747Met) rs1602276233
NM_000044.6(AR):c.2248A>G (p.Met750Val) rs1085307685
NM_000044.6(AR):c.2253C>T (p.Gly751=)
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.2274C>T (p.Val758=)
NM_000044.6(AR):c.2279C>A (p.Ser760Tyr) rs2147531034
NM_000044.6(AR):c.2283G>T (p.Arg761Ser) rs2076118894
NM_000044.6(AR):c.2289C>G (p.Leu763=)
NM_000044.6(AR):c.2289C>T (p.Leu763=)
NM_000044.6(AR):c.2295C>T (p.Phe765=)
NM_000044.6(AR):c.2296G>A (p.Ala766Thr) rs1555996863
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+1G>C rs1569314508
NM_000044.6(AR):c.2318+7G>T
NM_000044.6(AR):c.2318+8C>T
NM_000044.6(AR):c.2318A>G (p.Glu773Gly) rs2076119092
NM_000044.6(AR):c.2318A>T (p.Glu773Val) rs2076119092
NM_000044.6(AR):c.2319-10T>C
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.2319-17G>A
NM_000044.6(AR):c.2319-18T>C
NM_000044.6(AR):c.2319-1G>C
NM_000044.6(AR):c.2319-8C>T
NM_000044.6(AR):c.2319-9C>T
NM_000044.6(AR):c.2319_2321dup (p.Tyr774Ter) rs2147535489
NM_000044.6(AR):c.2322C>T (p.Tyr774=)
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.2327T>C (p.Met776Thr)
NM_000044.6(AR):c.2334G>T (p.Lys778Asn) rs2076137260
NM_000044.6(AR):c.2337C>G (p.Ser779=)
NM_000044.6(AR):c.2338C>T (p.Arg780Trp) rs2076137289
NM_000044.6(AR):c.2340G>T (p.Arg780=)
NM_000044.6(AR):c.2345A>G (p.Tyr782Cys)
NM_000044.6(AR):c.234G>A (p.Gln78=)
NM_000044.6(AR):c.2359C>T (p.Arg787Ter) rs1555997580
NM_000044.6(AR):c.2360G>C (p.Arg787Pro) rs764684648
NM_000044.6(AR):c.2363T>G (p.Met788Arg)
NM_000044.6(AR):c.2383T>G (p.Phe795Val) rs1162418613
NM_000044.6(AR):c.2391G>A (p.Trp797Ter) rs137852565
NM_000044.6(AR):c.2392C>A (p.Leu798Ile)
NM_000044.6(AR):c.2394C>A (p.Leu798=)
NM_000044.6(AR):c.2394C>T (p.Leu798=)
NM_000044.6(AR):c.239_240insGCAGCAGC (p.Glu81fs) rs1569263642
NM_000044.6(AR):c.239_240insGCAGCAGCAGTAGCAGCAGCAGCAGCA (p.Gln80_Glu81insGlnGlnGlnTer)
NM_000044.6(AR):c.2403C>G (p.Thr801=)
NM_000044.6(AR):c.2403C>T (p.Thr801=)
NM_000044.6(AR):c.2406C>A (p.Pro802=)
NM_000044.6(AR):c.2407del (p.Gln803fs)
NM_000044.6(AR):c.240A>G (p.Gln80=)
NM_000044.6(AR):c.2415C>T (p.Phe805=)
NM_000044.6(AR):c.2420G>A (p.Cys807Tyr) rs1064793480
NM_000044.6(AR):c.2421C>T (p.Cys807=)
NM_000044.6(AR):c.2436A>G (p.Leu812=)
NM_000044.6(AR):c.2437C>T (p.Leu813Phe) rs1555997625
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+3A>G
NM_000044.6(AR):c.2449+5G>A
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.2450-6C>G rs754515125
NM_000044.6(AR):c.2450-8C>T
NM_000044.6(AR):c.2460T>C (p.Asp820=)
NM_000044.6(AR):c.2464C>G (p.Leu822Val)
NM_000044.6(AR):c.2464C>T (p.Leu822=)
NM_000044.6(AR):c.2465T>A (p.Leu822Gln)
NM_000044.6(AR):c.246T>C (p.Thr82=)
NM_000044.6(AR):c.2473C>A (p.Gln825Lys)
NM_000044.6(AR):c.2481C>A (p.Phe827Leu)
NM_000044.6(AR):c.2481C>G (p.Phe827Leu)
NM_000044.6(AR):c.2490A>G (p.Glu830=)
NM_000044.6(AR):c.2491C>T (p.Leu831Phe)
NM_000044.6(AR):c.2493T>C (p.Leu831=)
NM_000044.6(AR):c.2495G>A (p.Arg832Gln) rs1386577803
NM_000044.6(AR):c.2505del (p.Asn834_Tyr835insTer)
NM_000044.6(AR):c.2507T>G (p.Ile836Ser) rs2076141961
NM_000044.6(AR):c.2511G>A (p.Lys837=)
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.2526C>T (p.Ile842=)
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>A (p.Arg856Ser) rs886041132
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.256CAG[7] (p.Gln91dup) rs753526329
NM_000044.6(AR):c.2571C>T (p.Phe857=)
NM_000044.6(AR):c.2580C>A (p.Leu860=)
NM_000044.6(AR):c.2591T>C (p.Leu864Pro) rs2076142560
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.2599G>A (p.Val867Met) rs137852564
NM_000044.6(AR):c.2607+10C>T
NM_000044.6(AR):c.2607+11G>A
NM_000044.6(AR):c.2607+12A>G
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.2608-17C>T
NM_000044.6(AR):c.2608-17_2608-16del rs749355366
NM_000044.6(AR):c.2608-19C>A
NM_000044.6(AR):c.2608-6C>T
NM_000044.6(AR):c.2608-7C>G
NM_000044.6(AR):c.2613G>A (p.Ala871=)
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.2629T>C (p.Phe877Leu) rs1057519864
NM_000044.6(AR):c.2641C>G (p.Leu881Val) rs755974042
NM_000044.6(AR):c.2641C>T (p.Leu881=)
NM_000044.6(AR):c.2653T>C (p.Ser885Pro) rs2147540359
NM_000044.6(AR):c.2656C>T (p.His886Tyr)
NM_000044.6(AR):c.2666G>T (p.Ser889Ile)
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>A (p.Pro893Gln) rs1602280356
NM_000044.6(AR):c.2678C>T (p.Pro893Leu) rs1602280356
NM_000044.6(AR):c.2679G>A (p.Pro893=)
NM_000044.6(AR):c.268C>T (p.Gln90Ter) rs1555969545
NM_000044.6(AR):c.2696T>C (p.Ile899Thr) rs1555998105
NM_000044.6(AR):c.2698A>T (p.Ile900Phe) rs1555998108
NM_000044.6(AR):c.2702C>T (p.Ser901Phe)
NM_000044.6(AR):c.2703T>C (p.Ser901=)
NM_000044.6(AR):c.2706G>A (p.Val902=)
NM_000044.6(AR):c.270G>T (p.Gln90His)
NM_000044.6(AR):c.2710G>A (p.Val904Met)
NM_000044.6(AR):c.271C>T (p.Gln91Ter) rs112374098
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.2741C>A (p.Pro914His) rs2147540801
NM_000044.6(AR):c.2741C>G (p.Pro914Arg)
NM_000044.6(AR):c.2744T>A (p.Ile915Asn) rs2147540812
NM_000044.6(AR):c.2745C>T (p.Ile915=)
NM_000044.6(AR):c.2750del (p.Phe917fs) rs2147540838
NM_000044.6(AR):c.2751C>T (p.Phe917=)
NM_000044.6(AR):c.2752del (p.His918fs) rs1602280414
NM_000044.6(AR):c.2760G>A (p.Gln920=)
NM_000044.6(AR):c.2761T>C (p.Ter921Arg)
NM_000044.6(AR):c.2762G>A (p.Ter921=)
NM_000044.6(AR):c.291C>T (p.Pro97=)
NM_000044.6(AR):c.292C>T (p.Gln98Ter) rs1555969553
NM_000044.6(AR):c.300T>C (p.His100=)
NM_000044.6(AR):c.302G>A (p.Arg101His)
NM_000044.6(AR):c.304A>T (p.Arg102Ter)
NM_000044.6(AR):c.312C>G (p.Pro104=)
NM_000044.6(AR):c.312C>T (p.Pro104=)
NM_000044.6(AR):c.321C>A (p.Tyr107Ter) rs1481151440
NM_000044.6(AR):c.333T>C (p.Asp111=)
NM_000044.6(AR):c.344_345insCAGATGAGGAACAGCA (p.Gln115delinsHisArgTer)
NM_000044.6(AR):c.357G>A (p.Pro119=)
NM_000044.6(AR):c.358C>T (p.Gln120Ter) rs1929683441
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.39G>A (p.Arg13=)
NM_000044.6(AR):c.414C>G (p.Ala138=)
NM_000044.6(AR):c.414C>T (p.Ala138=)
NM_000044.6(AR):c.420C>G (p.Ala140=)
NM_000044.6(AR):c.458C>T (p.Pro153Leu)
NM_000044.6(AR):c.459G>A (p.Pro153=)
NM_000044.6(AR):c.459G>C (p.Pro153=)
NM_000044.6(AR):c.45G>A (p.Pro15=)
NM_000044.6(AR):c.45G>T (p.Pro15=)
NM_000044.6(AR):c.462C>T (p.Asp154=)
NM_000044.6(AR):c.463G>T (p.Glu155Ter) rs764126853
NM_000044.6(AR):c.496C>T (p.Leu166=)
NM_000044.6(AR):c.510T>C (p.Thr170=)
NM_000044.6(AR):c.519C>G (p.Gly173=)
NM_000044.6(AR):c.51G>T (p.Lys17Asn)
NM_000044.6(AR):c.534C>T (p.Ser178=)
NM_000044.6(AR):c.546dup (p.Asp183fs)
NM_000044.6(AR):c.559G>T (p.Glu187Ter)
NM_000044.6(AR):c.593A>T (p.Gln198Leu)
NM_000044.6(AR):c.597G>A (p.Gln199=)
NM_000044.6(AR):c.5A>G (p.Glu2Gly) rs1929637005
NM_000044.6(AR):c.606A>C (p.Val202=)
NM_000044.6(AR):c.609C>A (p.Ser203=)
NM_000044.6(AR):c.609C>G (p.Ser203=)
NM_000044.6(AR):c.621C>G (p.Ser207Arg)
NM_000044.6(AR):c.627G>T (p.Gly209=)
NM_000044.6(AR):c.633G>C (p.Ala211=)
NM_000044.6(AR):c.646G>A (p.Gly216Arg) rs199554641
NM_000044.6(AR):c.646G>C (p.Gly216Arg)
NM_000044.6(AR):c.654C>T (p.Pro218=) rs751027309
NM_000044.6(AR):c.690G>C (p.Ser230=)
NM_000044.6(AR):c.725C>T (p.Ala242Val) rs1929701757
NM_000044.6(AR):c.732G>A (p.Ser244=)
NM_000044.6(AR):c.732G>T (p.Ser244=)
NM_000044.6(AR):c.733del (p.Val245fs)
NM_000044.6(AR):c.747G>A (p.Leu249=)
NM_000044.6(AR):c.749dup (p.Val251fs) rs1555969684
NM_000044.6(AR):c.756_765del (p.Glu252fs) rs1602144034
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.807C>T (p.Tyr269=)
NM_000044.6(AR):c.809C>A (p.Ala270Asp)
NM_000044.6(AR):c.828A>T (p.Pro276=)
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.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=)
NM_000044.6(AR):c.949A>G (p.Thr317Ala) rs1555969722
NM_000044.6(AR):c.967G>T (p.Glu323Ter)
NM_000044.6(AR):c.980G>A (p.Cys327Tyr)
NM_000044.6(AR):c.983C>G (p.Ser328Cys) rs1929717720
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.