ClinVar Miner

List of variants in gene HEXA reported by Revvity Omics, Revvity

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00045
NM_000520.6(HEXA):c.1073+41C>T rs367719010 0.00027
NM_000520.6(HEXA):c.1073+1G>A rs76173977 0.00021
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser) rs121907954 0.00014
NM_000520.6(HEXA):c.806-7G>A rs770932296 0.00006
NM_000520.6(HEXA):c.134A>C (p.Gln45Pro) rs144089645 0.00005
NM_000520.6(HEXA):c.460-1G>T rs764343937 0.00005
NM_000520.6(HEXA):c.1496G>A (p.Arg499His) rs121907956 0.00004
NM_000520.6(HEXA):c.1421+1G>C rs147324677 0.00002
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys) rs566580738 0.00002
NM_000520.6(HEXA):c.1177C>T (p.Arg393Ter) rs121907963 0.00001
NM_000520.6(HEXA):c.1422G>C (p.Trp474Cys) rs121907981 0.00001
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp) rs121907972 0.00001
NM_000520.6(HEXA):c.571-1G>T rs185429231 0.00001
NM_000520.6(HEXA):c.1333A>G (p.Thr445Ala) rs2542513018
NM_000520.6(HEXA):c.155C>A (p.Ser52Ter) rs987036804
NM_000520.6(HEXA):c.316C>T (p.Gln106Ter) rs773446161
NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr) rs772180415

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