ClinVar Miner

List of variants in gene HEXA reported as likely benign

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Gene type:
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Total variants: 151
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HGVS dbSNP
NM_000520.5(HEXA):c.-59G>A rs147174351
NM_000520.6(HEXA):c.*630A>G rs35949555
NM_000520.6(HEXA):c.-4G>A rs766510036
NM_000520.6(HEXA):c.1014T>C (p.Phe338=)
NM_000520.6(HEXA):c.102C>T (p.Asp34=) rs377310315
NM_000520.6(HEXA):c.1032C>T (p.Phe344=)
NM_000520.6(HEXA):c.1073+41C>T rs367719010
NM_000520.6(HEXA):c.1073+51G>A rs545676277
NM_000520.6(HEXA):c.1074-100T>C rs868411141
NM_000520.6(HEXA):c.1074-7T>C
NM_000520.6(HEXA):c.1074-86G>A rs1050913691
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.1092T>C (p.Ser364=)
NM_000520.6(HEXA):c.1098T>C (p.Tyr366=)
NM_000520.6(HEXA):c.1107C>T (p.Gly369=) rs140337137
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.1173G>A (p.Val391=)
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.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.1263C>T (p.Tyr421=)
NM_000520.6(HEXA):c.1266G>T (p.Leu422=)
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.1338T>A (p.Pro446=)
NM_000520.6(HEXA):c.1338T>C (p.Pro446=) rs34085965
NM_000520.6(HEXA):c.1359T>C (p.Ile453=)
NM_000520.6(HEXA):c.1374T>C (p.Cys458=)
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.1416G>A (p.Arg472=)
NM_000520.6(HEXA):c.1421+11del rs922064515
NM_000520.6(HEXA):c.1421+13G>A rs375201437
NM_000520.6(HEXA):c.1421+13dup rs780193130
NM_000520.6(HEXA):c.1421+14G>C rs201497629
NM_000520.6(HEXA):c.1421+15G>C rs185764548
NM_000520.6(HEXA):c.1421+15G>T rs185764548
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.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.1477C>T (p.Leu493=) rs774313739
NM_000520.6(HEXA):c.1518A>G (p.Glu506=) rs4777502
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.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.1554T>C (p.Asn518=)
NM_000520.6(HEXA):c.1557A>G (p.Val519=)
NM_000520.6(HEXA):c.1572G>A (p.Gln524=) rs1389009140
NM_000520.6(HEXA):c.168C>T (p.Pro56=)
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.210C>T (p.Asp70=)
NM_000520.6(HEXA):c.237C>T (p.Pro79=) rs763428989
NM_000520.6(HEXA):c.253+5074C>T rs149661366
NM_000520.6(HEXA):c.253+5107G>A rs748336538
NM_000520.6(HEXA):c.261G>A (p.Arg87=)
NM_000520.6(HEXA):c.268C>T (p.Leu90=)
NM_000520.6(HEXA):c.291C>T (p.Val97=)
NM_000520.6(HEXA):c.303A>G (p.Thr101=)
NM_000520.6(HEXA):c.309A>T (p.Gly103=) rs1595804037
NM_000520.6(HEXA):c.312T>C (p.Cys104=)
NM_000520.6(HEXA):c.346+13C>T rs200871198
NM_000520.6(HEXA):c.347-7A>G
NM_000520.6(HEXA):c.381C>A (p.Leu127=) rs1595803351
NM_000520.6(HEXA):c.393T>G (p.Thr131=)
NM_000520.6(HEXA):c.405T>C (p.Ala135=)
NM_000520.6(HEXA):c.408C>T (p.Leu136=)
NM_000520.6(HEXA):c.412+10T>C
NM_000520.6(HEXA):c.413-10A>G rs1361722304
NM_000520.6(HEXA):c.417G>A (p.Leu139=)
NM_000520.6(HEXA):c.42A>G (p.Ala14=)
NM_000520.6(HEXA):c.460-8C>T rs1437923865
NM_000520.6(HEXA):c.48C>T (p.Phe16=)
NM_000520.6(HEXA):c.492T>C (p.Phe164=)
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.539A>C (p.Tyr180Ser) rs200513831
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.570+10C>G
NM_000520.6(HEXA):c.570+9G>C
NM_000520.6(HEXA):c.571-4A>G
NM_000520.6(HEXA):c.582G>A (p.Ala194=) rs112614306
NM_000520.6(HEXA):c.582G>C (p.Ala194=)
NM_000520.6(HEXA):c.597C>T (p.Asn199=) rs756010672
NM_000520.6(HEXA):c.603C>T (p.Phe201=)
NM_000520.6(HEXA):c.633C>T (p.Phe211=)
NM_000520.6(HEXA):c.651T>G (p.Thr217=)
NM_000520.6(HEXA):c.672+10C>T
NM_000520.6(HEXA):c.673-13T>C rs75211071
NM_000520.6(HEXA):c.673-4T>C
NM_000520.6(HEXA):c.684C>T (p.Asn228=)
NM_000520.6(HEXA):c.6A>G (p.Thr2=)
NM_000520.6(HEXA):c.705A>G (p.Thr235=)
NM_000520.6(HEXA):c.735C>T (p.Tyr245=)
NM_000520.6(HEXA):c.738A>C (p.Ala246=)
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.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+7A>G
NM_000520.6(HEXA):c.805+8T>C
NM_000520.6(HEXA):c.806-10C>A
NM_000520.6(HEXA):c.806-8T>C
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.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.906C>T (p.Ser302=) rs765612435
NM_000520.6(HEXA):c.909A>T (p.Thr303=)
NM_000520.6(HEXA):c.957T>C (p.Leu319=) rs373799508
NM_000520.6(HEXA):c.96C>T (p.Thr32=)
NM_000520.6(HEXA):c.981C>T (p.Thr327=) rs1271376611
NM_000520.6(HEXA):c.987-8G>C
NM_000520.6(HEXA):c.9C>T (p.Ser3=) rs1800428
NR_134869.1(HEXA):n.335G>A rs77707876

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