ClinVar Miner

List of variants in gene HEXA reported as likely benign by Invitae

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Gene type:
ClinVar version:
Total variants: 34
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HGVS dbSNP
NM_000520.6(HEXA):c.102C>T (p.Asp34=) rs377310315
NM_000520.6(HEXA):c.1107C>T (p.Gly369=) rs140337137
NM_000520.6(HEXA):c.1146+18A>G rs1555472543
NM_000520.6(HEXA):c.1146+9G>C rs371023342
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.1305_1306inv (p.Ile436Val)
NM_000520.6(HEXA):c.1317C>T (p.Pro439=) rs1003506073
NM_000520.6(HEXA):c.1338T>C (p.Pro446=) rs34085965
NM_000520.6(HEXA):c.13A>C (p.Arg5=) rs1595816387
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.1527-6T>C rs199914308
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.1572G>A (p.Gln524=) rs1389009140
NM_000520.6(HEXA):c.237C>T (p.Pro79=) rs763428989
NM_000520.6(HEXA):c.309A>T (p.Gly103=) rs1595804037
NM_000520.6(HEXA):c.381C>A (p.Leu127=) rs1595803351
NM_000520.6(HEXA):c.413-10A>G rs1361722304
NM_000520.6(HEXA):c.460-8C>T rs1437923865
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.548T>A (p.Leu183His) rs185797496
NM_000520.6(HEXA):c.582G>A (p.Ala194=) rs112614306
NM_000520.6(HEXA):c.597C>T (p.Asn199=) rs756010672
NM_000520.6(HEXA):c.795C>T (p.Ser265=) rs746942625
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

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