ClinVar Miner

List of variants reported as pathogenic for Tay-Sachs disease by Counsyl

Included ClinVar conditions (2):
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Total variants: 8
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NM_000520.5(HEXA):c.1274_1277dup (p.Tyr427Ilefs) rs387906309
NM_000520.5(HEXA):c.533G>A (p.Arg178His) rs28941770
NM_000520.5(HEXA):c.805G>A (p.Gly269Ser) rs121907954
NM_000520.6(HEXA):c.1073+1G>A rs76173977
NM_000520.6(HEXA):c.1330+1G>A rs767041069
NM_000520.6(HEXA):c.1421+1G>C rs147324677
NM_000520.6(HEXA):c.1A>G (p.Met1Val) rs121907965
NM_000520.6(HEXA):c.346+1G>A rs797044432

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