ClinVar Miner

List of variants in gene HEXA reported as uncertain significance by Invitae

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Total variants: 48
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HGVS dbSNP
NC_000015.9:g.(?_72640007)_(72643595_?)dup
NM_000520.6(HEXA):c.1028G>T (p.Gly343Val) rs191330716
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.1073C>T (p.Thr358Met) rs552505619
NM_000520.6(HEXA):c.1087G>A (p.Val363Ile) rs557550173
NM_000520.6(HEXA):c.1087_1088delinsTA (p.Val363Tyr)
NM_000520.6(HEXA):c.10T>C (p.Ser4Pro) rs146938346
NM_000520.6(HEXA):c.1164C>G (p.Ile388Met)
NM_000520.6(HEXA):c.1217_1220delinsA (p.Leu406_Val407delinsHis)
NM_000520.6(HEXA):c.1229C>T (p.Ala410Val) rs151251788
NM_000520.6(HEXA):c.1264C>G (p.Leu422Val)
NM_000520.6(HEXA):c.1271G>A (p.Arg424His)
NM_000520.6(HEXA):c.134A>C (p.Gln45Pro) rs144089645
NM_000520.6(HEXA):c.1400C>T (p.Thr467Ile)
NM_000520.6(HEXA):c.1416G>C (p.Arg472Ser) rs369117208
NM_000520.6(HEXA):c.1421+7del
NM_000520.6(HEXA):c.1453T>C (p.Trp485Arg) rs121907968
NM_000520.6(HEXA):c.1476C>G (p.Asp492Glu) rs1185080097
NM_000520.6(HEXA):c.1526+1G>T rs1309204908
NM_000520.6(HEXA):c.1529G>A (p.Arg510Gln)
NM_000520.6(HEXA):c.1549dup (p.Leu517fs) rs1555472161
NM_000520.6(HEXA):c.181C>T (p.Leu61Phe) rs1595816175
NM_000520.6(HEXA):c.197A>G (p.Gln66Arg)
NM_000520.6(HEXA):c.218_219insAAA (p.Phe73delinsLeuAsn) rs1555475468
NM_000520.6(HEXA):c.227G>C (p.Gly76Ala)
NM_000520.6(HEXA):c.238C>A (p.Arg80Ser)
NM_000520.6(HEXA):c.253+4A>C
NM_000520.6(HEXA):c.298G>T (p.Val100Phe) rs794727250
NM_000520.6(HEXA):c.345T>G (p.Asn115Lys) rs774220090
NM_000520.6(HEXA):c.346+5G>A
NM_000520.6(HEXA):c.347A>T (p.Tyr116Phe)
NM_000520.6(HEXA):c.373T>G (p.Cys125Gly)
NM_000520.6(HEXA):c.410G>A (p.Arg137Gln)
NM_000520.6(HEXA):c.412+5C>A
NM_000520.6(HEXA):c.478G>A (p.Glu160Lys)
NM_000520.6(HEXA):c.542T>C (p.Leu181Pro)
NM_000520.6(HEXA):c.545C>T (p.Pro182Leu) rs148511084
NM_000520.6(HEXA):c.55C>T (p.Arg19Trp)
NM_000520.6(HEXA):c.581C>T (p.Ala194Val) rs778947516
NM_000520.6(HEXA):c.587A>G (p.Asn196Ser) rs753862880
NM_000520.6(HEXA):c.667A>G (p.Arg223Gly) rs1595800426
NM_000520.6(HEXA):c.672G>T (p.Lys224Asn) rs780134593
NM_000520.6(HEXA):c.72G>T (p.Trp24Cys) rs1555475519
NM_000520.6(HEXA):c.855C>T (p.Gly285=)
NM_000520.6(HEXA):c.902T>G (p.Met301Arg) rs121907977
NM_000520.6(HEXA):c.964G>A (p.Asp322Asn) rs772180415

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