ClinVar Miner

List of variants studied for Tay-Sachs disease by OMIM

Included ClinVar conditions (2):
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Total variants: 41
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HGVS dbSNP
HEXA, 1-BP INS
HEXA, 2-BP DEL, CODON 310
HEXA, 2-BP DEL, TG, EX5
HEXA, 2-BP DEL, TT, CODON 142
HEXA, 5-BP DEL, TCTCC, IVS9
HEXA, IVS2, G-A, +1
HEXA, IVS4, G-T, -1
HEXA, IVS7, G-A, +1
NM_000520.4(HEXA):c.[574G>C;598G>A]
NM_000520.5(HEXA):c.-207-2357_253+5128delinsG
NM_000520.5(HEXA):c.1177C>T (p.Arg393Ter) rs121907963
NM_000520.5(HEXA):c.1274_1277dup (p.Tyr427Ilefs) rs387906309
NM_000520.5(HEXA):c.1453T>C (p.Trp485Arg) rs121907968
NM_000520.5(HEXA):c.533G>A (p.Arg178His) rs28941770
NM_000520.5(HEXA):c.772G>C (p.Asp258His) rs121907971
NM_000520.5(HEXA):c.902T>G (p.Met301Arg) rs121907977
NM_000520.5(HEXA):c.915_917del (p.Phe305del) rs121907960
NM_000520.6(HEXA):c.1073+1G>A rs76173977
NM_000520.6(HEXA):c.116T>G (p.Leu39Arg) rs121907979
NM_000520.6(HEXA):c.1176G>A (p.Trp392Ter) rs267606862
NM_000520.6(HEXA):c.1260G>C (p.Trp420Cys) rs121907958
NM_000520.6(HEXA):c.1351C>G (p.Leu451Val) rs28940871
NM_000520.6(HEXA):c.1360G>A (p.Gly454Ser) rs121907978
NM_000520.6(HEXA):c.1421+1G>C rs147324677
NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys) rs121907952
NM_000520.6(HEXA):c.1510del (p.Arg504fs) rs797044433
NM_000520.6(HEXA):c.173G>A (p.Cys58Tyr) rs387906949
NM_000520.6(HEXA):c.1A>G (p.Met1Val) rs121907965
NM_000520.6(HEXA):c.346+1G>C rs797044432
NM_000520.6(HEXA):c.380T>G (p.Leu127Arg) rs121907975
NM_000520.6(HEXA):c.409C>T (p.Arg137Ter) rs121907962
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.532C>T (p.Arg178Cys) rs121907953
NM_000520.6(HEXA):c.533G>T (p.Arg178Leu) rs28941770
NM_000520.6(HEXA):c.540C>G (p.Tyr180Ter) rs121907969
NM_000520.6(HEXA):c.611A>G (p.His204Arg) rs121907976
NM_000520.6(HEXA):c.629C>T (p.Ser210Phe) rs121907961
NM_000520.6(HEXA):c.632T>C (p.Phe211Ser) rs121907974
NM_000520.6(HEXA):c.78G>A (p.Trp26Ter) rs121907964
NM_000520.6(HEXA):c.959_961GAG[1] (p.Gly321del) rs797044434

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