ClinVar Miner

List of variants in gene AR studied for 46,XY disorder of sex development

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 655
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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.1886-60G>A rs146283342 0.01144
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.1153G>T (p.Ala385Ser) rs200067740 0.00018
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.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.1513C>A (p.Pro505Thr) rs764238988 0.00002
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.2157G>A (p.Trp719Ter) rs137852563 0.00001
NM_000044.6(AR):c.2191G>A (p.Val731Met) rs137852571 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.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.1181_1200dup (p.Ala401fs)
NM_000044.6(AR):c.1185C>A (p.Tyr395Ter) rs1555969807
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.1341T>A (p.Tyr447Ter)
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[13] (p.Gly470_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[20] (p.Gly471_Gly473dup) rs746853821
NM_000044.6(AR):c.1370GCG[5] (p.Gly462_Gly473del) rs746853821
NM_000044.6(AR):c.1370GCG[6] (p.Gly463_Gly473del) rs746853821
NM_000044.6(AR):c.1370GCG[7] (p.Gly464_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.1396_1397insAG (p.Gly466fs)
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.1531A>T (p.Arg511Ter)
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.1567G>T (p.Glu523Ter) rs2147323184
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.1616+1_1616+3delinsT
NM_000044.6(AR):c.1616+22263G>A rs2147344557
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.1685T>C (p.Ile562Thr) rs886041050
NM_000044.6(AR):c.1686C>T (p.Ile562=)
NM_000044.6(AR):c.1687T>C (p.Cys563Arg)
NM_000044.6(AR):c.1688G>A (p.Cys563Tyr) rs1555982860
NM_000044.6(AR):c.1693G>C (p.Asp565His)
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.1722T>C (p.Ala574=)
NM_000044.6(AR):c.1724_1725del (p.Leu575fs) rs1602220874
NM_000044.6(AR):c.1731T>C (p.Cys577=)
NM_000044.6(AR):c.1732G>A (p.Gly578Arg) rs137852596
NM_000044.6(AR):c.1736G>C (p.Ser579Thr) rs1555982879
NM_000044.6(AR):c.1737C>A (p.Ser579Arg)
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.1739G>A (p.Cys580Tyr) rs137852586
NM_000044.6(AR):c.1739G>T (p.Cys580Phe) rs137852586
NM_000044.6(AR):c.1742A>C (p.Lys581Thr) rs2147436623
NM_000044.6(AR):c.1743G>C (p.Lys581Asn)
NM_000044.6(AR):c.1745T>A (p.Val582Asp)
NM_000044.6(AR):c.1748T>A (p.Phe583Tyr) rs137852587
NM_000044.6(AR):c.1749C>G (p.Phe583Leu)
NM_000044.6(AR):c.1756A>T (p.Arg586Ter)
NM_000044.6(AR):c.1761C>T (p.Ala587=)
NM_000044.6(AR):c.1762G>C (p.Ala588Pro) rs1034866440
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+1G>A rs2147436755
NM_000044.6(AR):c.1768+2T>C rs1555982894
NM_000044.6(AR):c.1768+3A>G rs2147436767
NM_000044.6(AR):c.1768+7G>A
NM_000044.6(AR):c.1769-11T>A rs2147497386
NM_000044.6(AR):c.1769-13T>G
NM_000044.6(AR):c.1769-15T>C
NM_000044.6(AR):c.1771A>T (p.Lys591Ter) rs137852566
NM_000044.6(AR):c.1793G>C (p.Ser598Thr) rs2075964628
NM_000044.6(AR):c.1793G>T (p.Ser598Ile)
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.1844G>C (p.Cys615Ser) rs1602255415
NM_000044.6(AR):c.1844del (p.Cys615fs)
NM_000044.6(AR):c.1846C>T (p.Arg616Cys) rs1555990485
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.1873A>G (p.Met625Val)
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.1888del (p.Arg630fs) rs1555995750
NM_000044.6(AR):c.1890G>A (p.Arg630=)
NM_000044.6(AR):c.1897A>T (p.Lys633Ter) rs1602272308
NM_000044.6(AR):c.1920A>G (p.Leu640=)
NM_000044.6(AR):c.1926G>A (p.Glu642=)
NM_000044.6(AR):c.1933G>T (p.Glu645Ter)
NM_000044.6(AR):c.1947C>T (p.Thr649=)
NM_000044.6(AR):c.1959T>G (p.Thr653=)
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.2021T>C (p.Phe674Ser) rs1602272541
NM_000044.6(AR):c.2031C>T (p.Val677=)
NM_000044.6(AR):c.2033T>C (p.Leu678Pro) rs137852579
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.2044G>A (p.Glu682Lys) rs1555995816
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.2056G>C (p.Val686Leu) rs2147524833
NM_000044.6(AR):c.2061T>C (p.Cys687=)
NM_000044.6(AR):c.2068C>A (p.His690Asn) rs1602272594
NM_000044.6(AR):c.2069A>C (p.His690Pro) rs137852599
NM_000044.6(AR):c.2070C>G (p.His690Gln) rs754583155
NM_000044.6(AR):c.2070C>T (p.His690=)
NM_000044.6(AR):c.2072A>G (p.Asp691Gly)
NM_000044.6(AR):c.2073C>T (p.Asp691=)
NM_000044.6(AR):c.2076C>A (p.Asn692Lys) rs2147524930
NM_000044.6(AR):c.2078A>T (p.Asn693Ile) rs2147524940
NM_000044.6(AR):c.2079C>G (p.Asn693Lys)
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.2090C>A (p.Ser697Tyr) rs1555995842
NM_000044.6(AR):c.2097A>G (p.Ala699=)
NM_000044.6(AR):c.2103G>T (p.Leu701Phe) rs1555995848
NM_000044.6(AR):c.2104C>T (p.Leu702Phe) rs1555995851
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.2123T>G (p.Leu708Arg) rs137852585
NM_000044.6(AR):c.2125G>A (p.Gly709Arg) rs2076094418
NM_000044.6(AR):c.2126G>A (p.Gly709Glu) rs2147525149
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.2137C>T (p.Leu713Phe) rs137852595
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.2155T>C (p.Trp719Arg) rs1555995865
NM_000044.6(AR):c.2156G>A (p.Trp719Ter)
NM_000044.6(AR):c.2159C>T (p.Ala720Val) rs2076094679
NM_000044.6(AR):c.2160del (p.Lys721fs) rs1602272697
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.2170C>T (p.Pro724Ser) rs2147525357
NM_000044.6(AR):c.2171C>T (p.Pro724Leu) rs1555995877
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.2221T>C (p.Ser741Pro)
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.2227A>G (p.Met743Val) rs2147530802
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.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.2255G>C (p.Trp752Ser) 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.2274C>T (p.Val758=)
NM_000044.6(AR):c.2279C>A (p.Ser760Tyr) rs2147531034
NM_000044.6(AR):c.2281_2287delinsTTCGCCCCTGA (p.Arg761fs) rs869320732
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.2291A>G (p.Tyr764Cys) rs137852567
NM_000044.6(AR):c.2295C>T (p.Phe765=)
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.2309T>G (p.Val770Gly) rs1555996870
NM_000044.6(AR):c.2310T>C (p.Val770=)
NM_000044.6(AR):c.2314A>C (p.Asn772His) rs886041352
NM_000044.6(AR):c.2317G>A (p.Glu773Lys)
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.2339G>A (p.Arg780Gln)
NM_000044.6(AR):c.2339G>C (p.Arg780Pro)
NM_000044.6(AR):c.2340G>T (p.Arg780=)
NM_000044.6(AR):c.2342T>A (p.Met781Lys) rs2076137339
NM_000044.6(AR):c.2343G>T (p.Met781Ile) rs137852589
NM_000044.6(AR):c.2345A>G (p.Tyr782Cys)
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.2362A>G (p.Met788Val) rs137852570
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.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.2407dup (p.Gln803fs) rs2147535891
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.2423T>C (p.Met808Thr) rs137852592
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+1G>A
NM_000044.6(AR):c.2449+1_2449+3dup
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+5G>T rs1602278831
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.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.2484T>A (p.Phe828Leu)
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.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.2511G>A (p.Lys837=)
NM_000044.6(AR):c.2512G>A (p.Glu838Lys) rs1555997775
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.2562_2563del (p.Arg855fs) rs1555997799
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.2570_2572del (p.Phe857del) rs2076142436
NM_000044.6(AR):c.2571C>G (p.Phe857Leu) rs137852598
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.2593G>A (p.Asp865Asn) rs1555997810
NM_000044.6(AR):c.2596T>C (p.Ser866Pro) rs137852597
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.2599G>T (p.Val867Leu) 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.2607+2T>G rs2147538369
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.2613del (p.Arg872fs) rs1555998085
NM_000044.6(AR):c.2619G>A (p.Glu873=)
NM_000044.6(AR):c.2620C>T (p.Leu874=)
NM_000044.6(AR):c.2629T>C (p.Phe877Leu) rs1057519864
NM_000044.6(AR):c.2633C>T (p.Thr878Ile) rs137852580
NM_000044.6(AR):c.2636T>C (p.Phe879Ser)
NM_000044.6(AR):c.2641C>G (p.Leu881Val) rs755974042
NM_000044.6(AR):c.2641C>T (p.Leu881=)
NM_000044.6(AR):c.2650A>T (p.Lys884Ter) rs137852568
NM_000044.6(AR):c.2653T>C (p.Ser885Pro) rs2147540359
NM_000044.6(AR):c.2656C>T (p.His886Tyr)
NM_000044.6(AR):c.2657A>T (p.His886Leu) rs2147540378
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.2683ATG[1] (p.Met896del) rs1555998102
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.2710G>A (p.Val904Met)
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.2721C>A (p.Ile907=)
NM_000044.6(AR):c.2726C>T (p.Ser909Phe) rs2147540747
NM_000044.6(AR):c.2736C>G (p.Val912=)
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.2747A>C (p.Tyr916Ser) rs2076147482
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.329_333del (p.Leu110fs)
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.35del (p.Pro12fs)
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.4G>A (p.Glu2Lys) rs104894742
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.521T>G (p.Leu174Ter) rs137852590
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.667G>A (p.Asp223Asn) rs1036966197
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.743G>T (p.Gly248Val) rs1555969682
NM_000044.6(AR):c.747G>A (p.Leu249=)
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.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.796dup (p.Asp266fs) rs1555969694
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.847C>T (p.Pro283Ser) rs1929708922
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.865G>T (p.Glu289Ter) rs750324117
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)
NM_000044.6:c.1363GGT[2_4]GGC[12_29]

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