ClinVar Miner

List of variants in gene HEXA studied for not provided

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Gene type:
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Total variants: 85
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HGVS dbSNP
NM_000520.4(HEXA):c.745C>T (p.Arg249Trp) rs138058578
NM_000520.6(HEXA):c.-4G>A rs766510036
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.1073+1G>A rs76173977
NM_000520.6(HEXA):c.1107C>T (p.Gly369=) rs140337137
NM_000520.6(HEXA):c.1123del (p.Glu375fs) rs766138785
NM_000520.6(HEXA):c.1142_1146del (p.Val381fs) rs1595798033
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=) rs751185874
NM_000520.6(HEXA):c.1231G>A (p.Gly411Ser) rs575121167
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.1264C>G (p.Leu422Val)
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309
NM_000520.6(HEXA):c.1302C>G (p.Phe434Leu) rs202173526
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=) rs1003506073
NM_000520.6(HEXA):c.1330+1G>A rs767041069
NM_000520.6(HEXA):c.1337C>G (p.Pro446Arg) rs939203533
NM_000520.6(HEXA):c.1338T>C (p.Pro446=) rs34085965
NM_000520.6(HEXA):c.1397A>G (p.Asn466Ser) rs200936836
NM_000520.6(HEXA):c.13A>C (p.Arg5=) rs1595816387
NM_000520.6(HEXA):c.1421+1G>C rs147324677
NM_000520.6(HEXA):c.1422-237A>G rs8037749
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.1477C>T (p.Leu493=) rs774313739
NM_000520.6(HEXA):c.1490A>G (p.Tyr497Cys) rs147502219
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.1518A>G (p.Glu506=) rs4777502
NM_000520.6(HEXA):c.1526+79A>G rs2912218
NM_000520.6(HEXA):c.1527-6T>C rs199914308
NM_000520.6(HEXA):c.1528C>T (p.Arg510Ter) rs786204585
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.1549C>G (p.Leu517Val) rs1595795490
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.1A>T (p.Met1Leu) rs121907965
NM_000520.6(HEXA):c.21G>A (p.Trp7Ter) rs1407480461
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.298G>T (p.Val100Phe) rs794727250
NM_000520.6(HEXA):c.2T>C (p.Met1Thr) rs786204721
NM_000520.6(HEXA):c.309A>T (p.Gly103=) rs1595804037
NM_000520.6(HEXA):c.310T>G (p.Cys104Gly) rs1064796678
NM_000520.6(HEXA):c.381C>A (p.Leu127=) rs1595803351
NM_000520.6(HEXA):c.38C>T (p.Ala13Val) rs145666272
NM_000520.6(HEXA):c.409C>T (p.Arg137Ter) rs121907962
NM_000520.6(HEXA):c.410G>A (p.Arg137Gln)
NM_000520.6(HEXA):c.459+5G>A rs762060470
NM_000520.6(HEXA):c.497G>A (p.Arg166His) rs398123442
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.528A>C (p.Thr176=) rs1458388844
NM_000520.6(HEXA):c.530C>G (p.Ser177Cys) rs1064794856
NM_000520.6(HEXA):c.533G>A (p.Arg178His) rs28941770
NM_000520.6(HEXA):c.536A>G (p.His179Arg) rs747372270
NM_000520.6(HEXA):c.548T>A (p.Leu183His) rs185797496
NM_000520.6(HEXA):c.574G>A (p.Val192Ile) rs387906310
NM_000520.6(HEXA):c.582G>A (p.Ala194=) rs112614306
NM_000520.6(HEXA):c.590A>C (p.Lys197Thr) rs121907973
NM_000520.6(HEXA):c.597C>T (p.Asn199=) rs756010672
NM_000520.6(HEXA):c.672+1G>A rs387906311
NM_000520.6(HEXA):c.672+30T>G rs117160567
NM_000520.6(HEXA):c.698T>C (p.Ile233Thr) rs1595800112
NM_000520.6(HEXA):c.69C>G (p.Leu23=) rs143554538
NM_000520.6(HEXA):c.72G>T (p.Trp24Cys) rs1555475519
NM_000520.6(HEXA):c.736G>T (p.Ala246Ser) rs758166013
NM_000520.6(HEXA):c.739C>T (p.Arg247Trp) rs121907970
NM_000520.6(HEXA):c.748G>A (p.Gly250Ser) rs1057521137
NM_000520.6(HEXA):c.759G>A (p.Val253=) rs117513345
NM_000520.6(HEXA):c.795C>T (p.Ser265=) rs746942625
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser) rs121907954
NM_000520.6(HEXA):c.8G>C (p.Ser3Thr) rs374524755
NM_000520.6(HEXA):c.906C>T (p.Ser302=) rs765612435
NM_000520.6(HEXA):c.957T>C (p.Leu319=) rs373799508
NM_000520.6(HEXA):c.981C>T (p.Thr327=) rs1271376611
NM_000520.6(HEXA):c.9C>T (p.Ser3=) rs1800428
Single allele

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