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: 92
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HGVS dbSNP gnomAD frequency
NM_022173.4(TIA1):c.953A>G (p.Gln318Arg) rs115611153 0.00704
NM_022173.4(TIA1):c.48A>G (p.Arg16=) rs115062005 0.00016
NM_022173.4(TIA1):c.398+10A>G rs372161184 0.00014
NM_022173.4(TIA1):c.187T>C (p.Leu63=) rs374166300 0.00011
NM_022173.4(TIA1):c.918T>C (p.Tyr306=) rs373992720 0.00009
NM_022173.4(TIA1):c.283A>T (p.Thr95Ser) rs767534980 0.00008
NM_022173.4(TIA1):c.738T>C (p.Phe246=) rs567115305 0.00008
NM_022173.4(TIA1):c.1035-7C>T rs202093855 0.00007
NM_022173.4(TIA1):c.33C>T (p.Val11=) rs761527779 0.00006
NM_022173.4(TIA1):c.42T>C (p.Leu14=) rs139181563 0.00006
NM_022173.4(TIA1):c.561C>T (p.Pro187=) rs533863358 0.00006
NM_022173.4(TIA1):c.339C>T (p.Leu113=) rs1310209475 0.00004
NM_022173.4(TIA1):c.405C>A (p.Ala135=) rs758482149 0.00004
NM_022173.4(TIA1):c.691C>A (p.Arg231Ser) rs752346516 0.00004
NM_022173.4(TIA1):c.1035-14A>G rs372228986 0.00003
NM_022173.4(TIA1):c.1034+20T>C rs754029121 0.00002
NM_022173.4(TIA1):c.277+7A>G rs750466101 0.00002
NM_022173.4(TIA1):c.310+19A>G rs1175481114 0.00002
NM_022173.4(TIA1):c.475-8C>T rs762783979 0.00002
NM_022173.4(TIA1):c.1032T>C (p.Phe344=) rs1014286030 0.00001
NM_022173.4(TIA1):c.1035-20T>G rs1264961449 0.00001
NM_022173.4(TIA1):c.1146G>T (p.Gly382=) rs746021823 0.00001
NM_022173.4(TIA1):c.310+12T>C rs769464163 0.00001
NM_022173.4(TIA1):c.321T>C (p.His107=) rs759209695 0.00001
NM_022173.4(TIA1):c.474+10G>T rs760401337 0.00001
NM_022173.4(TIA1):c.615T>G (p.Val205=) rs774396205 0.00001
NM_022173.4(TIA1):c.764+10G>A rs547201931 0.00001
NM_022173.4(TIA1):c.1035-13C>T
NM_022173.4(TIA1):c.1035-6C>A rs1262396095
NM_022173.4(TIA1):c.1035-8T>C
NM_022173.4(TIA1):c.1035-9C>G
NM_022173.4(TIA1):c.123+15C>G
NM_022173.4(TIA1):c.123+7G>A rs1285035427
NM_022173.4(TIA1):c.124-14T>G
NM_022173.4(TIA1):c.159T>C (p.Phe53=)
NM_022173.4(TIA1):c.205C>A (p.Arg69=) rs568284639
NM_022173.4(TIA1):c.207G>A (p.Arg69=) rs2104449868
NM_022173.4(TIA1):c.222+11G>A
NM_022173.4(TIA1):c.223-14T>A
NM_022173.4(TIA1):c.223-15A>T
NM_022173.4(TIA1):c.223-16A>C
NM_022173.4(TIA1):c.223-4T>G
NM_022173.4(TIA1):c.228C>G (p.Val76=) rs1350429063
NM_022173.4(TIA1):c.237T>C (p.Asn79=) rs2104412830
NM_022173.4(TIA1):c.26+17G>A
NM_022173.4(TIA1):c.26+7C>G rs1230596375
NM_022173.4(TIA1):c.264G>A (p.Lys88=)
NM_022173.4(TIA1):c.27-11T>C
NM_022173.4(TIA1):c.27-13C>G rs1688823152
NM_022173.4(TIA1):c.27-13C>T
NM_022173.4(TIA1):c.277+12T>A rs2104411614
NM_022173.4(TIA1):c.277+15T>C
NM_022173.4(TIA1):c.278-17C>G rs2104408170
NM_022173.4(TIA1):c.310+14_310+16del
NM_022173.4(TIA1):c.311-20C>T
NM_022173.4(TIA1):c.324C>T (p.Val108=)
NM_022173.4(TIA1):c.378T>C (p.Phe126=)
NM_022173.4(TIA1):c.384A>G (p.Pro128=)
NM_022173.4(TIA1):c.398+11_398+12del rs774191937
NM_022173.4(TIA1):c.399-14G>T
NM_022173.4(TIA1):c.399-19T>G
NM_022173.4(TIA1):c.432A>G (p.Gly144=) rs2104293004
NM_022173.4(TIA1):c.447T>C (p.Tyr149=)
NM_022173.4(TIA1):c.450C>T (p.Gly150=)
NM_022173.4(TIA1):c.456C>T (p.Val152=)
NM_022173.4(TIA1):c.45C>T (p.Ser15=)
NM_022173.4(TIA1):c.474+11T>C
NM_022173.4(TIA1):c.474+15_474+17dup rs769573516
NM_022173.4(TIA1):c.480T>C (p.Ala160=) rs2103955179
NM_022173.4(TIA1):c.486C>T (p.Asn162=)
NM_022173.4(TIA1):c.504T>C (p.Gly168=) rs768840712
NM_022173.4(TIA1):c.540C>T (p.Asn180=) rs2103954084
NM_022173.4(TIA1):c.584-20_584-19del
NM_022173.4(TIA1):c.584-5A>C rs2103942498
NM_022173.4(TIA1):c.645T>G (p.Thr215=) rs2103940711
NM_022173.4(TIA1):c.679+7del rs757725649
NM_022173.4(TIA1):c.680-15dup rs778392214
NM_022173.4(TIA1):c.680-16G>T
NM_022173.4(TIA1):c.680-22_680-19del
NM_022173.4(TIA1):c.680-5A>G
NM_022173.4(TIA1):c.680-7C>G
NM_022173.4(TIA1):c.747A>G (p.Lys249=)
NM_022173.4(TIA1):c.759T>C (p.Phe253=)
NM_022173.4(TIA1):c.764+10G>T
NM_022173.4(TIA1):c.765-14A>G
NM_022173.4(TIA1):c.843C>T (p.Cys281=)
NM_022173.4(TIA1):c.846T>C (p.Tyr282=) rs1558756592
NM_022173.4(TIA1):c.852C>G (p.Gly284=)
NM_022173.4(TIA1):c.889-15A>G
NM_022173.4(TIA1):c.889-17T>C
NM_022173.4(TIA1):c.951A>G (p.Gln317=) rs1236324874
NM_022173.4(TIA1):c.978T>A (p.Gly326=)

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