ClinVar Miner

List of variants in gene HEXA reported by Invitae

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Gene type:
ClinVar version:
Total variants: 255
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HGVS dbSNP
NC_000015.10:g.(?_72345446)_(72346710_?)del
NC_000015.10:g.(?_72350508)_(72351244_?)del
NC_000015.10:g.(?_72374460)_(72375992_?)del
NC_000015.10:g.(?_72375710)_(72376483_?)del
NC_000015.9:g.(?_72637767)_(72639071_?)del
NC_000015.9:g.(?_72640007)_(72643595_?)dup
NC_000015.9:g.(?_72662933_72670877del
NM_000520.4(HEXA):c.745C>T (p.Arg249Trp) rs138058578
NM_000520.6(HEXA):c.1014T>C (p.Phe338=)
NM_000520.6(HEXA):c.1028G>T (p.Gly343Val) rs191330716
NM_000520.6(HEXA):c.102C>T (p.Asp34=) rs377310315
NM_000520.6(HEXA):c.1032C>T (p.Phe344=)
NM_000520.6(HEXA):c.1033G>A (p.Gly345Ser) rs775322979
NM_000520.6(HEXA):c.1039G>T (p.Asp347Tyr)
NM_000520.6(HEXA):c.106C>T (p.Arg36Cys)
NM_000520.6(HEXA):c.1073+1G>A rs76173977
NM_000520.6(HEXA):c.1073+1G>C
NM_000520.6(HEXA):c.1073C>T (p.Thr358Met) rs552505619
NM_000520.6(HEXA):c.1074-7T>C
NM_000520.6(HEXA):c.1074-8C>T
NM_000520.6(HEXA):c.1080G>A (p.Leu360=)
NM_000520.6(HEXA):c.1086C>T (p.Ile362=)
NM_000520.6(HEXA):c.1087G>A (p.Val363Ile) rs557550173
NM_000520.6(HEXA):c.1087_1088delinsTA (p.Val363Tyr)
NM_000520.6(HEXA):c.1092T>C (p.Ser364=)
NM_000520.6(HEXA):c.1098T>C (p.Tyr366=)
NM_000520.6(HEXA):c.1098T>G (p.Tyr366Ter)
NM_000520.6(HEXA):c.10T>C (p.Ser4Pro) rs146938346
NM_000520.6(HEXA):c.1107C>T (p.Gly369=) rs140337137
NM_000520.6(HEXA):c.1123del (p.Glu375fs) rs766138785
NM_000520.6(HEXA):c.1143A>G (p.Val381=)
NM_000520.6(HEXA):c.1146+18A>G rs1555472543
NM_000520.6(HEXA):c.1146+8G>A rs201453018
NM_000520.6(HEXA):c.1146+9G>C rs371023342
NM_000520.6(HEXA):c.1147-7A>G
NM_000520.6(HEXA):c.1161A>T (p.Thr387=)
NM_000520.6(HEXA):c.1164C>G (p.Ile388Met)
NM_000520.6(HEXA):c.1168C>T (p.Gln390Ter) rs988192535
NM_000520.6(HEXA):c.1171G>A (p.Val391Met)
NM_000520.6(HEXA):c.1173G>A (p.Val391=)
NM_000520.6(HEXA):c.1177C>T (p.Arg393Ter) rs121907963
NM_000520.6(HEXA):c.1191A>G (p.Pro397=)
NM_000520.6(HEXA):c.1195A>G (p.Asn399Asp) rs1800430
NM_000520.6(HEXA):c.1216C>T (p.Leu406=) rs140482769
NM_000520.6(HEXA):c.1217_1220delinsA (p.Leu406_Val407delinsHis)
NM_000520.6(HEXA):c.1220del (p.Val407fs)
NM_000520.6(HEXA):c.1229C>T (p.Ala410Val) rs151251788
NM_000520.6(HEXA):c.1230C>T (p.Ala410=) rs751185874
NM_000520.6(HEXA):c.1231G>A (p.Gly411Ser) rs575121167
NM_000520.6(HEXA):c.1239G>A (p.Arg413=)
NM_000520.6(HEXA):c.1239G>T (p.Arg413=)
NM_000520.6(HEXA):c.123G>T (p.Pro41=)
NM_000520.6(HEXA):c.1254C>T (p.Ala418=) rs1248988558
NM_000520.6(HEXA):c.1257C>T (p.Pro419=) rs1595797185
NM_000520.6(HEXA):c.1258del (p.Trp420fs)
NM_000520.6(HEXA):c.1260G>C (p.Trp420Cys) rs121907958
NM_000520.6(HEXA):c.1263C>T (p.Tyr421=)
NM_000520.6(HEXA):c.1264C>G (p.Leu422Val)
NM_000520.6(HEXA):c.1266G>T (p.Leu422=)
NM_000520.6(HEXA):c.1271G>A (p.Arg424His)
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309
NM_000520.6(HEXA):c.1305_1306inv (p.Ile436Val)
NM_000520.6(HEXA):c.1306A>G (p.Ile436Val) rs1800431
NM_000520.6(HEXA):c.1307_1308del (p.Ile436fs) rs777042785
NM_000520.6(HEXA):c.1317C>T (p.Pro439=) rs1003506073
NM_000520.6(HEXA):c.1330+1G>A rs767041069
NM_000520.6(HEXA):c.1338T>A (p.Pro446=)
NM_000520.6(HEXA):c.1338T>C (p.Pro446=) rs34085965
NM_000520.6(HEXA):c.134A>C (p.Gln45Pro) rs144089645
NM_000520.6(HEXA):c.1359T>C (p.Ile453=)
NM_000520.6(HEXA):c.1374T>C (p.Cys458=)
NM_000520.6(HEXA):c.13A>C (p.Arg5=) rs1595816387
NM_000520.6(HEXA):c.1400C>T (p.Thr467Ile)
NM_000520.6(HEXA):c.140del (p.Gln47fs)
NM_000520.6(HEXA):c.1416G>A (p.Arg472=)
NM_000520.6(HEXA):c.1416G>C (p.Arg472Ser) rs369117208
NM_000520.6(HEXA):c.1419_1420del (p.Trp474fs)
NM_000520.6(HEXA):c.1421+14G>C rs201497629
NM_000520.6(HEXA):c.1421+1G>C rs147324677
NM_000520.6(HEXA):c.1421+1G>T rs147324677
NM_000520.6(HEXA):c.1421+7del
NM_000520.6(HEXA):c.1421+9T>C
NM_000520.6(HEXA):c.1422-10T>C
NM_000520.6(HEXA):c.1422-7C>T
NM_000520.6(HEXA):c.1422-8T>C
NM_000520.6(HEXA):c.1422G>C (p.Trp474Cys) rs121907981
NM_000520.6(HEXA):c.1425C>T (p.Pro475=)
NM_000520.6(HEXA):c.1434G>C (p.Gly478=)
NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr) rs145012038
NM_000520.6(HEXA):c.1443C>T (p.Ala481=) rs140091006
NM_000520.6(HEXA):c.144C>T (p.Tyr48=)
NM_000520.6(HEXA):c.1453T>C (p.Trp485Arg) rs121907968
NM_000520.6(HEXA):c.1454G>A (p.Trp485Ter) rs1057519468
NM_000520.6(HEXA):c.1476C>G (p.Asp492Glu) rs1185080097
NM_000520.6(HEXA):c.1477C>T (p.Leu493=) rs774313739
NM_000520.6(HEXA):c.1496G>A (p.Arg499His) rs121907956
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys) rs28942071
NM_000520.6(HEXA):c.1511G>A (p.Arg504His) rs121907955
NM_000520.6(HEXA):c.1518A>G (p.Glu506=) rs4777502
NM_000520.6(HEXA):c.1526+1G>T rs1309204908
NM_000520.6(HEXA):c.1526+7_1526+10del
NM_000520.6(HEXA):c.1527-10C>G
NM_000520.6(HEXA):c.1527-6T>C rs199914308
NM_000520.6(HEXA):c.1527-7C>T
NM_000520.6(HEXA):c.1528C>T (p.Arg510Ter) rs786204585
NM_000520.6(HEXA):c.1529G>A (p.Arg510Gln)
NM_000520.6(HEXA):c.1533T>C (p.Gly511=)
NM_000520.6(HEXA):c.1545A>G (p.Gln515=) rs369398952
NM_000520.6(HEXA):c.1548C>T (p.Pro516=) rs1322003883
NM_000520.6(HEXA):c.1549dup (p.Leu517fs) rs1555472161
NM_000520.6(HEXA):c.1554T>C (p.Asn518=)
NM_000520.6(HEXA):c.1557A>G (p.Val519=)
NM_000520.6(HEXA):c.155C>A (p.Ser52Ter) rs987036804
NM_000520.6(HEXA):c.1572G>A (p.Gln524=) rs1389009140
NM_000520.6(HEXA):c.168C>T (p.Pro56=)
NM_000520.6(HEXA):c.181C>T (p.Leu61Phe) rs1595816175
NM_000520.6(HEXA):c.183C>G (p.Leu61=)
NM_000520.6(HEXA):c.183C>T (p.Leu61=)
NM_000520.6(HEXA):c.186C>T (p.Asp62=)
NM_000520.6(HEXA):c.189G>A (p.Glu63=)
NM_000520.6(HEXA):c.197A>G (p.Gln66Arg)
NM_000520.6(HEXA):c.1A>C (p.Met1Leu) rs121907965
NM_000520.6(HEXA):c.210C>T (p.Asp70=)
NM_000520.6(HEXA):c.218_219insAAA (p.Phe73delinsLeuAsn) rs1555475468
NM_000520.6(HEXA):c.227G>C (p.Gly76Ala)
NM_000520.6(HEXA):c.233G>A (p.Trp78Ter) rs769035623
NM_000520.6(HEXA):c.237C>T (p.Pro79=) rs763428989
NM_000520.6(HEXA):c.238C>A (p.Arg80Ser)
NM_000520.6(HEXA):c.253+4A>C
NM_000520.6(HEXA):c.254-2A>G
NM_000520.6(HEXA):c.261G>A (p.Arg87=)
NM_000520.6(HEXA):c.268C>T (p.Leu90=)
NM_000520.6(HEXA):c.276dup (p.Asn93fs)
NM_000520.6(HEXA):c.289_290del (p.Val97fs)
NM_000520.6(HEXA):c.291C>T (p.Val97=)
NM_000520.6(HEXA):c.298G>T (p.Val100Phe) rs794727250
NM_000520.6(HEXA):c.2T>C (p.Met1Thr) rs786204721
NM_000520.6(HEXA):c.303A>G (p.Thr101=)
NM_000520.6(HEXA):c.309A>T (p.Gly103=) rs1595804037
NM_000520.6(HEXA):c.310_313dup (p.Asn105delinsMetTer)
NM_000520.6(HEXA):c.312T>C (p.Cys104=)
NM_000520.6(HEXA):c.32del (p.Leu11fs)
NM_000520.6(HEXA):c.345T>G (p.Asn115Lys) rs774220090
NM_000520.6(HEXA):c.346+1G>T rs797044432
NM_000520.6(HEXA):c.346+5G>A
NM_000520.6(HEXA):c.347-7A>G
NM_000520.6(HEXA):c.347A>T (p.Tyr116Phe)
NM_000520.6(HEXA):c.373T>G (p.Cys125Gly)
NM_000520.6(HEXA):c.381C>A (p.Leu127=) rs1595803351
NM_000520.6(HEXA):c.393T>G (p.Thr131=)
NM_000520.6(HEXA):c.397del (p.Trp133fs)
NM_000520.6(HEXA):c.3G>A (p.Met1Ile) rs1595816410
NM_000520.6(HEXA):c.405T>C (p.Ala135=)
NM_000520.6(HEXA):c.408C>T (p.Leu136=)
NM_000520.6(HEXA):c.409C>T (p.Arg137Ter) rs121907962
NM_000520.6(HEXA):c.410G>A (p.Arg137Gln)
NM_000520.6(HEXA):c.412+10T>C
NM_000520.6(HEXA):c.412+5C>A
NM_000520.6(HEXA):c.413-10A>G rs1361722304
NM_000520.6(HEXA):c.417G>A (p.Leu139=)
NM_000520.6(HEXA):c.422del (p.Thr141fs)
NM_000520.6(HEXA):c.425_426del (p.Thr141_Phe142insTer) rs1057519458
NM_000520.6(HEXA):c.42A>G (p.Ala14=)
NM_000520.6(HEXA):c.430C>T (p.Gln144Ter) rs1595802191
NM_000520.6(HEXA):c.459+5G>A rs762060470
NM_000520.6(HEXA):c.460-1G>T rs764343937
NM_000520.6(HEXA):c.460-8C>T rs1437923865
NM_000520.6(HEXA):c.465del (p.Phe155fs) rs1057516850
NM_000520.6(HEXA):c.478G>A (p.Glu160Lys)
NM_000520.6(HEXA):c.48C>T (p.Phe16=)
NM_000520.6(HEXA):c.492T>C (p.Phe164=)
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp) rs121907972
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln) rs121907957
NM_000520.6(HEXA):c.517C>T (p.Leu173=) rs200743199
NM_000520.6(HEXA):c.519G>C (p.Leu173=)
NM_000520.6(HEXA):c.51A>C (p.Ala17=)
NM_000520.6(HEXA):c.528A>C (p.Thr176=) rs1458388844
NM_000520.6(HEXA):c.532C>T (p.Arg178Cys) rs121907953
NM_000520.6(HEXA):c.533G>A (p.Arg178His) rs28941770
NM_000520.6(HEXA):c.542T>C (p.Leu181Pro)
NM_000520.6(HEXA):c.545C>T (p.Pro182Leu) rs148511084
NM_000520.6(HEXA):c.548T>A (p.Leu183His) rs185797496
NM_000520.6(HEXA):c.552T>C (p.Ser184=)
NM_000520.6(HEXA):c.559C>T (p.Leu187=)
NM_000520.6(HEXA):c.55C>T (p.Arg19Trp)
NM_000520.6(HEXA):c.570+10C>G
NM_000520.6(HEXA):c.570+9G>C
NM_000520.6(HEXA):c.571-1G>T rs185429231
NM_000520.6(HEXA):c.571-4A>G
NM_000520.6(HEXA):c.581C>T (p.Ala194Val) rs778947516
NM_000520.6(HEXA):c.582G>A (p.Ala194=) rs112614306
NM_000520.6(HEXA):c.582G>C (p.Ala194=)
NM_000520.6(HEXA):c.587A>G (p.Asn196Ser) rs753862880
NM_000520.6(HEXA):c.597C>T (p.Asn199=) rs756010672
NM_000520.6(HEXA):c.603C>T (p.Phe201=)
NM_000520.6(HEXA):c.631_634del (p.Phe211fs)
NM_000520.6(HEXA):c.633C>T (p.Phe211=)
NM_000520.6(HEXA):c.651T>G (p.Thr217=)
NM_000520.6(HEXA):c.667A>G (p.Arg223Gly) rs1595800426
NM_000520.6(HEXA):c.672+10C>T
NM_000520.6(HEXA):c.672+30T>G rs117160567
NM_000520.6(HEXA):c.672G>T (p.Lys224Asn) rs780134593
NM_000520.6(HEXA):c.673-4T>C
NM_000520.6(HEXA):c.684C>T (p.Asn228=)
NM_000520.6(HEXA):c.69C>G (p.Leu23=) rs143554538
NM_000520.6(HEXA):c.6A>G (p.Thr2=)
NM_000520.6(HEXA):c.705A>G (p.Thr235=)
NM_000520.6(HEXA):c.709C>T (p.Gln237Ter) rs150675340
NM_000520.6(HEXA):c.72G>T (p.Trp24Cys) rs1555475519
NM_000520.6(HEXA):c.735C>T (p.Tyr245=)
NM_000520.6(HEXA):c.738A>C (p.Ala246=)
NM_000520.6(HEXA):c.739C>T (p.Arg247Trp) rs121907970
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys) rs566580738
NM_000520.6(HEXA):c.755G>A (p.Arg252His)
NM_000520.6(HEXA):c.759G>A (p.Val253=) rs117513345
NM_000520.6(HEXA):c.75C>G (p.Pro25=)
NM_000520.6(HEXA):c.768G>A (p.Glu256=)
NM_000520.6(HEXA):c.772G>C (p.Asp258His) rs121907971
NM_000520.6(HEXA):c.788C>T (p.Thr263Ile) rs1057519462
NM_000520.6(HEXA):c.78G>A (p.Trp26Ter) rs121907964
NM_000520.6(HEXA):c.792G>A (p.Leu264=)
NM_000520.6(HEXA):c.795C>T (p.Ser265=) rs746942625
NM_000520.6(HEXA):c.805+10A>T
NM_000520.6(HEXA):c.805+1G>A rs121907980
NM_000520.6(HEXA):c.805+1G>C rs121907980
NM_000520.6(HEXA):c.805+7A>G
NM_000520.6(HEXA):c.805+8T>C
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser) rs121907954
NM_000520.6(HEXA):c.805G>C (p.Gly269Arg) rs121907954
NM_000520.6(HEXA):c.806-10C>A
NM_000520.6(HEXA):c.806-7G>A rs770932296
NM_000520.6(HEXA):c.806-8T>C
NM_000520.6(HEXA):c.806G>A (p.Gly269Asp)
NM_000520.6(HEXA):c.840G>A (p.Gly280=)
NM_000520.6(HEXA):c.849C>G (p.Pro283=)
NM_000520.6(HEXA):c.849C>T (p.Pro283=)
NM_000520.6(HEXA):c.855C>T (p.Gly285=)
NM_000520.6(HEXA):c.867A>G (p.Pro289=)
NM_000520.6(HEXA):c.876C>T (p.Pro292=)
NM_000520.6(HEXA):c.888T>C (p.Asn296=)
NM_000520.6(HEXA):c.8G>C (p.Ser3Thr) rs374524755
NM_000520.6(HEXA):c.902T>G (p.Met301Arg) rs121907977
NM_000520.6(HEXA):c.906C>T (p.Ser302=) rs765612435
NM_000520.6(HEXA):c.909A>T (p.Thr303=)
NM_000520.6(HEXA):c.912CTT[1] (p.Phe305del) rs121907960
NM_000520.6(HEXA):c.929_930del (p.Ser310fs) rs751248523
NM_000520.6(HEXA):c.957T>C (p.Leu319=) rs373799508
NM_000520.6(HEXA):c.964G>A (p.Asp322Asn) rs772180415
NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr) rs772180415
NM_000520.6(HEXA):c.96C>T (p.Thr32=)
NM_000520.6(HEXA):c.981C>T (p.Thr327=) rs1271376611
NM_000520.6(HEXA):c.986+1G>A
NM_000520.6(HEXA):c.986+3A>G rs200926928
NM_000520.6(HEXA):c.987-8G>C
NM_000520.6(HEXA):c.9C>T (p.Ser3=) rs1800428

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