ClinVar Miner

List of variants in gene TIA1 reported as likely benign for autosomal dominant distal myopathy

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP
NM_022173.4(TIA1):c.1032T>C (p.Phe344=)
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.237T>C (p.Asn79=)
NM_022173.4(TIA1):c.277+7A>G
NM_022173.4(TIA1):c.283A>T (p.Thr95Ser)
NM_022173.4(TIA1):c.321T>C (p.His107=)
NM_022173.4(TIA1):c.33C>T (p.Val11=) rs761527779
NM_022173.4(TIA1):c.398+10A>G rs372161184
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.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.584-5A>C
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.691C>A (p.Arg231Ser)
NM_022173.4(TIA1):c.738T>C (p.Phe246=)
NM_022173.4(TIA1):c.764+10G>A rs547201931
NM_022173.4(TIA1):c.846T>C (p.Tyr282=)
NM_022173.4(TIA1):c.918T>C (p.Tyr306=) rs373992720
NM_022173.4(TIA1):c.951A>G (p.Gln317=)
NM_022173.4(TIA1):c.953A>G (p.Gln318Arg) rs115611153

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