ClinVar Miner

List of variants in gene HEXA reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 108
Download table as spreadsheet
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.(?_72640007)_(72643595_?)dup
NM_000520.4(HEXA):c.745C>T (p.Arg249Trp) rs138058578
NM_000520.6(HEXA):c.1028G>T (p.Gly343Val)
NM_000520.6(HEXA):c.102C>T (p.Asp34=)
NM_000520.6(HEXA):c.106C>T (p.Arg36Cys)
NM_000520.6(HEXA):c.1073+1G>A rs76173977
NM_000520.6(HEXA):c.1073C>T (p.Thr358Met) rs552505619
NM_000520.6(HEXA):c.1107C>T (p.Gly369=) rs140337137
NM_000520.6(HEXA):c.1123del (p.Glu375fs) rs766138785
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
NM_000520.6(HEXA):c.1168C>T (p.Gln390Ter) rs988192535
NM_000520.6(HEXA):c.1177C>T (p.Arg393Ter) rs121907963
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.1230C>T (p.Ala410=)
NM_000520.6(HEXA):c.1231G>A (p.Gly411Ser) rs575121167
NM_000520.6(HEXA):c.1254C>T (p.Ala418=)
NM_000520.6(HEXA):c.1257C>T (p.Pro419=)
NM_000520.6(HEXA):c.1264C>G (p.Leu422Val)
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.1317C>T (p.Pro439=)
NM_000520.6(HEXA):c.1338T>C (p.Pro446=)
NM_000520.6(HEXA):c.134A>C (p.Gln45Pro) rs144089645
NM_000520.6(HEXA):c.13A>C (p.Arg5=)
NM_000520.6(HEXA):c.1416G>C (p.Arg472Ser) rs369117208
NM_000520.6(HEXA):c.1421+1G>C rs147324677
NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr) rs145012038
NM_000520.6(HEXA):c.1443C>T (p.Ala481=)
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)
NM_000520.6(HEXA):c.1477C>T (p.Leu493=)
NM_000520.6(HEXA):c.1496G>A (p.Arg499His) rs121907956
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.1527-6T>C rs199914308
NM_000520.6(HEXA):c.1528C>T (p.Arg510Ter) rs786204585
NM_000520.6(HEXA):c.1529G>A (p.Arg510Gln)
NM_000520.6(HEXA):c.1545A>G (p.Gln515=)
NM_000520.6(HEXA):c.1548C>T (p.Pro516=)
NM_000520.6(HEXA):c.1549dup (p.Leu517fs) rs1555472161
NM_000520.6(HEXA):c.155C>A (p.Ser52Ter) rs987036804
NM_000520.6(HEXA):c.1572G>A (p.Gln524=)
NM_000520.6(HEXA):c.181C>T (p.Leu61Phe)
NM_000520.6(HEXA):c.218_219insAAA (p.Phe73delinsLeuAsn) rs1555475468
NM_000520.6(HEXA):c.233G>A (p.Trp78Ter) rs769035623
NM_000520.6(HEXA):c.237C>T (p.Pro79=)
NM_000520.6(HEXA):c.276dup (p.Asn93fs)
NM_000520.6(HEXA):c.2T>C (p.Met1Thr) rs786204721
NM_000520.6(HEXA):c.309A>T (p.Gly103=)
NM_000520.6(HEXA):c.310_313dup (p.Asn105delinsMetTer)
NM_000520.6(HEXA):c.345T>G (p.Asn115Lys)
NM_000520.6(HEXA):c.373T>G (p.Cys125Gly)
NM_000520.6(HEXA):c.381C>A (p.Leu127=)
NM_000520.6(HEXA):c.3G>A (p.Met1Ile)
NM_000520.6(HEXA):c.409C>T (p.Arg137Ter) rs121907962
NM_000520.6(HEXA):c.410G>A (p.Arg137Gln)
NM_000520.6(HEXA):c.413-10A>G
NM_000520.6(HEXA):c.422del (p.Thr141fs)
NM_000520.6(HEXA):c.430C>T (p.Gln144Ter)
NM_000520.6(HEXA):c.459+5G>A rs762060470
NM_000520.6(HEXA):c.460-8C>T
NM_000520.6(HEXA):c.465del (p.Phe155fs) rs1057516850
NM_000520.6(HEXA):c.478G>A (p.Glu160Lys)
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=)
NM_000520.6(HEXA):c.528A>C (p.Thr176=)
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.548T>A (p.Leu183His) rs185797496
NM_000520.6(HEXA):c.571-1G>T rs185429231
NM_000520.6(HEXA):c.581C>T (p.Ala194Val) rs778947516
NM_000520.6(HEXA):c.582G>A (p.Ala194=)
NM_000520.6(HEXA):c.587A>G (p.Asn196Ser)
NM_000520.6(HEXA):c.597C>T (p.Asn199=)
NM_000520.6(HEXA):c.667A>G (p.Arg223Gly)
NM_000520.6(HEXA):c.672G>T (p.Lys224Asn)
NM_000520.6(HEXA):c.69C>G (p.Leu23=)
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.739C>T (p.Arg247Trp) rs121907970
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys) rs566580738
NM_000520.6(HEXA):c.759G>A (p.Val253=) rs117513345
NM_000520.6(HEXA):c.772G>C (p.Asp258His) rs121907971
NM_000520.6(HEXA):c.795C>T (p.Ser265=)
NM_000520.6(HEXA):c.805+1G>A rs121907980
NM_000520.6(HEXA):c.805+1G>C rs121907980
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser) rs121907954
NM_000520.6(HEXA):c.806-7G>A rs770932296
NM_000520.6(HEXA):c.806G>A (p.Gly269Asp)
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=)
NM_000520.6(HEXA):c.912_914CTT[1] (p.Phe305del) rs121907960
NM_000520.6(HEXA):c.957T>C (p.Leu319=)
NM_000520.6(HEXA):c.964G>A (p.Asp322Asn) rs772180415
NM_000520.6(HEXA):c.981C>T (p.Thr327=)
NM_000520.6(HEXA):c.986+3A>G rs200926928
NM_000520.6(HEXA):c.9C>T (p.Ser3=) rs1800428

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.