ClinVar Miner

List of variants reported as pathogenic for Tay-Sachs disease

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 85
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HGVS dbSNP
HEXA, 2-BP DEL, CODON 310
HEXA, 2-BP DEL, TG, EX5
HEXA, 5-BP DEL, TCTCC, IVS9
HEXA, IVS2, G-A, +1
HEXA, IVS4, G-T, -1
HEXA, IVS7, G-A, +1
NM_000405.5(GM2A):c.333del (p.Cys112fs) rs587779405
NM_000520.4(HEXA):c.[574G>C;598G>A]
NM_000520.5(HEXA):c.-207-2357_253+5128delinsG
NM_000520.5(HEXA):c.1168C>T (p.Gln390Ter) rs988192535
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.1496G>A (p.Arg499His) rs121907956
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.805G>A (p.Gly269Ser) rs121907954
NM_000520.5(HEXA):c.902T>G (p.Met301Arg) rs121907977
NM_000520.5(HEXA):c.915_917del (p.Phe305del) rs121907960
NM_000520.5(HEXA):c.964G>A (p.Asp322Asn) rs772180415
NM_000520.6(HEXA):c.1073+1G>A rs76173977
NM_000520.6(HEXA):c.1121A>C (p.Gln374Pro) rs1057519464
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.1178G>C (p.Arg393Pro) rs370266293
NM_000520.6(HEXA):c.1260G>C (p.Trp420Cys) rs121907958
NM_000520.6(HEXA):c.1275_1278dup (p.Tyr427fs) rs1555472406
NM_000520.6(HEXA):c.1305C>T (p.Tyr435=) rs587779406
NM_000520.6(HEXA):c.1330+1G>A rs767041069
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.1385A>T (p.Glu462Val) rs863225434
NM_000520.6(HEXA):c.1421+1G>C rs147324677
NM_000520.6(HEXA):c.1421G>A (p.Trp474Ter) rs762374961
NM_000520.6(HEXA):c.1432G>A (p.Gly478Arg) rs1057519467
NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys) rs121907952
NM_000520.6(HEXA):c.1454G>A (p.Trp485Ter) rs1057519468
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys) rs121907966
NM_000520.6(HEXA):c.1499del (p.Leu500fs) rs1567295184
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys) rs28942071
NM_000520.6(HEXA):c.1510del (p.Arg504fs) rs797044433
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.173G>A (p.Cys58Tyr) rs387906949
NM_000520.6(HEXA):c.1A>G (p.Met1Val) rs121907965
NM_000520.6(HEXA):c.2T>C (p.Met1Thr) rs786204721
NM_000520.6(HEXA):c.316C>T (p.Gln106Ter) rs773446161
NM_000520.6(HEXA):c.340G>A (p.Glu114Lys) rs748190164
NM_000520.6(HEXA):c.346+1G>A rs797044432
NM_000520.6(HEXA):c.346+1G>C rs797044432
NM_000520.6(HEXA):c.380T>G (p.Leu127Arg) rs121907975
NM_000520.6(HEXA):c.3G>A (p.Met1Ile)
NM_000520.6(HEXA):c.409C>T (p.Arg137Ter) rs121907962
NM_000520.6(HEXA):c.425_426del (p.Thr141_Phe142insTer)
NM_000520.6(HEXA):c.426del (p.Phe142fs) rs1057519458
NM_000520.6(HEXA):c.430C>T (p.Gln144Ter)
NM_000520.6(HEXA):c.459+4A>C rs1057519459
NM_000520.6(HEXA):c.459+5G>A rs762060470
NM_000520.6(HEXA):c.460-1G>T rs764343937
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.524A>C (p.Asp175Ala) rs1057519460
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.546dup (p.Leu183fs)
NM_000520.6(HEXA):c.571-1G>T
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.672+30T>G rs117160567
NM_000520.6(HEXA):c.709C>T (p.Gln237Ter) rs150675340
NM_000520.6(HEXA):c.718_719insT (p.Lys240fs) rs587779407
NM_000520.6(HEXA):c.78G>A (p.Trp26Ter) rs121907964
NM_000520.6(HEXA):c.805+1G>A rs121907980
NM_000520.6(HEXA):c.805+1G>C rs121907980
NM_000520.6(HEXA):c.805G>C (p.Gly269Arg) rs121907954
NM_000520.6(HEXA):c.806-7G>A rs770932296
NM_000520.6(HEXA):c.898_905del (p.Phe300fs) rs1057519463
NM_000520.6(HEXA):c.927_928CT[1] (p.Ser310fs) rs751248523
NM_000520.6(HEXA):c.959_961GAG[1] (p.Gly321del) rs797044434
NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr) rs772180415
NM_000520.6(HEXA):c.986+3A>G rs200926928
NM_001318825.1(HEXA):c.1544G>A (p.Arg515His) rs121907955

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