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: 42
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp) rs138060032 0.00029
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) rs72646846 0.00006
NM_001267550.2(TTN):c.86821+2T>A rs397517735 0.00005
NM_001267550.2(TTN):c.49648+2del rs727504851 0.00003
NM_001267550.2(TTN):c.6555_6556insTGTAAGGAAACAGACA (p.Lys2186fs) rs587780494 0.00003
NM_001267550.2(TTN):c.107377+1G>A rs112188483 0.00002
NM_001267550.2(TTN):c.107578C>T (p.Gln35860Ter) rs1009131948 0.00001
NM_001267550.2(TTN):c.14093-1G>A rs869312099 0.00001
NM_001267550.2(TTN):c.15796C>T (p.Arg5266Ter) rs372277017 0.00001
NM_001267550.2(TTN):c.16288C>T (p.Arg5430Ter) rs772235481 0.00001
NM_001267550.2(TTN):c.73846C>T (p.Arg24616Ter) rs794729284 0.00001
NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter) rs770038577 0.00001
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu) rs753334568 0.00001
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.105423C>G (p.Tyr35141Ter) rs534484592
NM_001267550.2(TTN):c.106629del (p.Ala35544fs) rs869312069
NM_001267550.2(TTN):c.107647del (p.Ser35883fs) rs281864932
NM_001267550.2(TTN):c.107780_107790delinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys) rs281864927
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.35154dup (p.Val11719fs) rs2067087661
NM_001267550.2(TTN):c.38442dup (p.Pro12815fs) rs752101551
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.64252_64253insGAGTA (p.Tyr21418Ter)
NM_001267550.2(TTN):c.65863+1G>A rs2154178615
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001267550.2(TTN):c.74338C>T (p.Arg24780Ter) rs794729285
NM_001267550.2(TTN):c.75138_75141del (p.Lys25046fs) rs794729340
NM_001267550.2(TTN):c.80380C>T (p.Gln26794Ter) rs2154165062
NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter) rs869178171
NM_001267550.2(TTN):c.86387_86391del (p.Arg28796fs) rs794729354
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.95358C>G (p.Asn31786Lys) rs869320743

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