ClinVar Miner

List of variants in gene HEXA reported as pathogenic by Invitae

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Gene type:
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Total variants: 36
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HGVS dbSNP
NC_000015.10:g.(?_72350508)_(72351244_?)del
NC_000015.10:g.(?_72374460)_(72375992_?)del
NC_000015.10:g.(?_72375710)_(72376483_?)del
NM_000520.6(HEXA):c.1073+1G>A rs76173977
NM_000520.6(HEXA):c.1123del (p.Glu375fs) rs766138785
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.1274_1277dup (p.Tyr427fs) rs387906309
NM_000520.6(HEXA):c.1421+1G>C rs147324677
NM_000520.6(HEXA):c.1454G>A (p.Trp485Ter) rs1057519468
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.1528C>T (p.Arg510Ter) rs786204585
NM_000520.6(HEXA):c.155C>A (p.Ser52Ter) rs987036804
NM_000520.6(HEXA):c.233G>A (p.Trp78Ter) rs769035623
NM_000520.6(HEXA):c.276dup (p.Asn93fs)
NM_000520.6(HEXA):c.2T>C (p.Met1Thr) rs786204721
NM_000520.6(HEXA):c.310_313dup (p.Asn105delinsMetTer)
NM_000520.6(HEXA):c.3G>A (p.Met1Ile) rs1595816410
NM_000520.6(HEXA):c.409C>T (p.Arg137Ter) rs121907962
NM_000520.6(HEXA):c.422del (p.Thr141fs)
NM_000520.6(HEXA):c.430C>T (p.Gln144Ter) rs1595802191
NM_000520.6(HEXA):c.459+5G>A rs762060470
NM_000520.6(HEXA):c.465del (p.Phe155fs) rs1057516850
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.533G>A (p.Arg178His) rs28941770
NM_000520.6(HEXA):c.571-1G>T rs185429231
NM_000520.6(HEXA):c.709C>T (p.Gln237Ter) rs150675340
NM_000520.6(HEXA):c.772G>C (p.Asp258His) rs121907971
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.912_914CTT[1] (p.Phe305del) rs121907960
NM_000520.6(HEXA):c.986+3A>G rs200926928

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