ClinVar Miner

List of variants in gene TTN reported as pathogenic for autosomal dominant distal myopathy

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.107647del (p.Ser35883fs) rs281864932
NM_001267550.2(TTN):c.107837A>C (p.His35946Pro) rs281864931
NM_001267550.2(TTN):c.107840T>A (p.Ile35947Asn) rs281864928
NM_001267550.2(TTN):c.107867T>C (p.Leu35956Pro) rs267607156
NM_001267550.2(TTN):c.107889del (p.Lys35963fs) rs281864930
NM_001267550.2(TTN):c.107890C>T (p.Gln35964Ter) rs281864929
NM_001267550.2(TTN):c.107892_107897del (p.Gln35964_Gly35966delinsHis) rs281864933
NM_001267550.2(TTN):c.15796C>T (p.Arg5266Ter) rs372277017
NM_001267550.2(TTN):c.16288C>T (p.Arg5430Ter) rs772235481
NM_001267550.2(TTN):c.38442dup (p.Pro12815fs)
NM_001267550.2(TTN):c.47961del (p.Gly15988fs) rs1553707780
NM_001267550.2(TTN):c.50083C>T (p.Arg16695Ter) rs751502842
NM_001267550.2(TTN):c.5047C>T (p.Arg1683Ter) rs587780490
NM_001267550.2(TTN):c.6555_6556insTGTAAGGAAACAGACA (p.Lys2186fs) rs587780494
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) rs574660186
NM_001267550.2(TTN):c.75138_75141del (p.Lys25046fs) rs794729340
NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter) rs869178171
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp) rs138060032
NM_001267550.2(TTN):c.95126C>G (p.Pro31709Arg) rs869320739
NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg) rs869320740
NM_001267550.2(TTN):c.95185T>C (p.Trp31729Arg) rs869320741
NM_001267550.2(TTN):c.95186G>T (p.Trp31729Leu) rs786205367
NM_001267550.2(TTN):c.95187G>C (p.Trp31729Cys) rs869320742
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu) rs753334568
NM_001267550.2(TTN):c.95358C>G (p.Asn31786Lys) rs869320743
NM_003319.4(TTN):c.80585_80595delinsTGAAAGAAAAA (p.Glu26862_Trp26865delinsValLysGluLys) rs281864927
NM_133378.4(TTN):c.10361-1G>A rs869312099

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