ClinVar Miner

List of variants in gene HEXA reported by GeneDx

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Total variants: 24
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HGVS dbSNP
NM_000520.6(HEXA):c.1073+1G>A rs76173977
NM_000520.6(HEXA):c.1137_1141TAAAG[1] (p.Val381fs)
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.1330+1G>A rs767041069
NM_000520.6(HEXA):c.1421+1G>C rs147324677
NM_000520.6(HEXA):c.1422-237A>G
NM_000520.6(HEXA):c.1496G>A (p.Arg499His) rs121907956
NM_000520.6(HEXA):c.1526+79A>G
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.21G>A (p.Trp7Ter) rs1407480461
NM_000520.6(HEXA):c.233G>A (p.Trp78Ter) rs769035623
NM_000520.6(HEXA):c.2T>C (p.Met1Thr) rs786204721
NM_000520.6(HEXA):c.310T>G (p.Cys104Gly) rs1064796678
NM_000520.6(HEXA):c.409C>T (p.Arg137Ter) rs121907962
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln) rs121907957
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.672+1G>A rs387906311
NM_000520.6(HEXA):c.748G>A (p.Gly250Ser) rs1057521137
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser) rs121907954
NM_000520.6(HEXA):c.9C>T (p.Ser3=) rs1800428

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