ClinVar Miner

List of variants in gene TIA1 studied for autosomal dominant distal myopathy

Included ClinVar conditions (33):
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Gene type:
ClinVar version:
Total variants: 81
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HGVS dbSNP
NC_000002.12:g.(?_70212709)_(70248440_?)del
NM_022173.4(TIA1):c.1006G>A (p.Gly336Ser)
NM_022173.4(TIA1):c.1032T>C (p.Phe344=)
NM_022173.4(TIA1):c.1070A>G (p.Asn357Ser) rs116621885
NM_022173.4(TIA1):c.1078G>A (p.Val360Met) rs201905164
NM_022173.4(TIA1):c.1082A>C (p.Gln361Pro) rs556545503
NM_022173.4(TIA1):c.1085C>T (p.Pro362Leu)
NM_022173.4(TIA1):c.1086G>A (p.Pro362=) rs72902461
NM_022173.4(TIA1):c.1096C>T (p.Gln366Ter)
NM_022173.4(TIA1):c.1101T>C (p.Asn367=) rs200990761
NM_022173.4(TIA1):c.1108A>G (p.Met370Val)
NM_022173.4(TIA1):c.1117A>G (p.Asn373Asp)
NM_022173.4(TIA1):c.1118A>G (p.Asn373Ser)
NM_022173.4(TIA1):c.1122G>A (p.Gln374=) rs76710635
NM_022173.4(TIA1):c.1146G>T (p.Gly382=)
NM_022173.4(TIA1):c.1150G>A (p.Glu384Lys) rs747068278
NM_022173.4(TIA1):c.1156del (p.Gln386fs) rs1553422555
NM_022173.4(TIA1):c.143A>G (p.Tyr48Cys)
NM_022173.4(TIA1):c.154G>A (p.Glu52Lys)
NM_022173.4(TIA1):c.167A>G (p.His56Arg)
NM_022173.4(TIA1):c.187T>C (p.Leu63=) rs374166300
NM_022173.4(TIA1):c.205C>A (p.Arg69=)
NM_022173.4(TIA1):c.207G>A (p.Arg69=)
NM_022173.4(TIA1):c.209A>T (p.Lys70Met)
NM_022173.4(TIA1):c.223-3T>A rs750261656
NM_022173.4(TIA1):c.223-3del rs750862626
NM_022173.4(TIA1):c.237T>C (p.Asn79=)
NM_022173.4(TIA1):c.27-6T>A rs1573660635
NM_022173.4(TIA1):c.277+3_277+5dup rs1266600719
NM_022173.4(TIA1):c.277+6T>G
NM_022173.4(TIA1):c.277+7A>G
NM_022173.4(TIA1):c.283A>T (p.Thr95Ser)
NM_022173.4(TIA1):c.30C>T (p.Tyr10=) rs532963050
NM_022173.4(TIA1):c.311A>T (p.Asp104Val) rs143209672
NM_022173.4(TIA1):c.321T>C (p.His107=)
NM_022173.4(TIA1):c.328G>A (p.Val110Ile)
NM_022173.4(TIA1):c.33C>T (p.Val11=) rs761527779
NM_022173.4(TIA1):c.380C>T (p.Ala127Val) rs1558837955
NM_022173.4(TIA1):c.398+10A>G rs372161184
NM_022173.4(TIA1):c.398+3A>G
NM_022173.4(TIA1):c.398C>T (p.Ser133Leu)
NM_022173.4(TIA1):c.422T>C (p.Met141Thr) rs1558817897
NM_022173.4(TIA1):c.42T>C (p.Leu14=)
NM_022173.4(TIA1):c.432A>G (p.Gly144=)
NM_022173.4(TIA1):c.474+10G>T rs760401337
NM_022173.4(TIA1):c.475-3C>T rs200499196
NM_022173.4(TIA1):c.480T>C (p.Ala160=)
NM_022173.4(TIA1):c.48A>G (p.Arg16=) rs115062005
NM_022173.4(TIA1):c.504T>C (p.Gly168=)
NM_022173.4(TIA1):c.540C>T (p.Asn180=)
NM_022173.4(TIA1):c.561C>T (p.Pro187=)
NM_022173.4(TIA1):c.562G>T (p.Ala188Ser)
NM_022173.4(TIA1):c.584-5A>C
NM_022173.4(TIA1):c.597G>C (p.Gln199His)
NM_022173.4(TIA1):c.615T>G (p.Val205=)
NM_022173.4(TIA1):c.679+7del
NM_022173.4(TIA1):c.680-15dup
NM_022173.4(TIA1):c.683A>T (p.Gln228Leu)
NM_022173.4(TIA1):c.689T>C (p.Met230Thr)
NM_022173.4(TIA1):c.691C>A (p.Arg231Ser)
NM_022173.4(TIA1):c.70C>G (p.Leu24Val)
NM_022173.4(TIA1):c.738T>C (p.Phe246=)
NM_022173.4(TIA1):c.75A>G (p.Gln25=) rs114952383
NM_022173.4(TIA1):c.764+10G>A rs547201931
NM_022173.4(TIA1):c.770A>T (p.Asn257Ile) rs765028674
NM_022173.4(TIA1):c.775C>A (p.His259Asn)
NM_022173.4(TIA1):c.805G>A (p.Val269Ile)
NM_022173.4(TIA1):c.846T>C (p.Tyr282=)
NM_022173.4(TIA1):c.869T>C (p.Met290Thr) rs116707801
NM_022173.4(TIA1):c.880G>A (p.Val294Met) rs144296151
NM_022173.4(TIA1):c.913C>T (p.Pro305Ser)
NM_022173.4(TIA1):c.918T>C (p.Tyr306=) rs373992720
NM_022173.4(TIA1):c.924G>A (p.Gln308=) rs79075815
NM_022173.4(TIA1):c.93A>G (p.Gly31=)
NM_022173.4(TIA1):c.947C>G (p.Ala316Gly) rs116828570
NM_022173.4(TIA1):c.951A>G (p.Gln317=)
NM_022173.4(TIA1):c.953A>G (p.Gln318Arg) rs115611153
NM_022173.4(TIA1):c.971C>G (p.Pro324Arg)
NM_022173.4(TIA1):c.978T>C (p.Gly326=) rs78236170
NM_022173.4(TIA1):c.98G>T (p.Cys33Phe)
NM_022173.4(TIA1):c.992C>T (p.Ala331Val)

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