ClinVar Miner

List of variants in gene TTN reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) rs72646846 0.00006
NM_001267550.2(TTN):c.100587G>A (p.Trp33529Ter) rs1064793560 0.00001
NM_001267550.2(TTN):c.35794G>T (p.Glu11932Ter) rs878854299 0.00001
NM_001267550.2(TTN):c.52021C>T (p.Arg17341Ter) rs926741242 0.00001
NM_001267550.2(TTN):c.60733C>T (p.Arg20245Ter) rs1057522256 0.00001
NM_001267550.2(TTN):c.82240C>T (p.Arg27414Ter) rs766840243 0.00001
NM_001267550.2(TTN):c.90697C>T (p.Arg30233Ter) rs1553539391 0.00001
NM_001267550.2(TTN):c.94855C>T (p.Arg31619Ter) rs869312121 0.00001
NM_001267550.2(TTN):c.100446dup (p.Glu33483fs) rs878854281
NM_001267550.2(TTN):c.101494del (p.Ile33832fs) rs1559044465
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.103804C>T (p.Gln34602Ter)
NM_001267550.2(TTN):c.104030_104031del (p.Glu34677fs)
NM_001267550.2(TTN):c.105422dup (p.Tyr35141Ter) rs1558995457
NM_001267550.2(TTN):c.106259del (p.Pro35420fs) rs1688559718
NM_001267550.2(TTN):c.13058del (p.Pro4353fs) rs1408345511
NM_001267550.2(TTN):c.15464dup (p.Cys5156fs)
NM_001267550.2(TTN):c.22973C>G (p.Ser7658Ter) rs1553908254
NM_001267550.2(TTN):c.28001G>A (p.Trp9334Ter) rs1057519160
NM_001267550.2(TTN):c.30253C>T (p.Gln10085Ter) rs1057519237
NM_001267550.2(TTN):c.33229A>T (p.Lys11077Ter) rs2154270980
NM_001267550.2(TTN):c.34407del (p.Lys11470fs) rs2068001470
NM_001267550.2(TTN):c.35248del (p.Ile11750fs) rs2154264365
NM_001267550.2(TTN):c.35876-2A>G rs1577134819
NM_001267550.2(TTN):c.40558G>C (p.Val13520Leu) rs587780488
NM_001267550.2(TTN):c.42235C>T (p.Arg14079Ter) rs745926057
NM_001267550.2(TTN):c.44249del (p.Asn14750fs) rs2154219900
NM_001267550.2(TTN):c.46428_46429+7delinsG
NM_001267550.2(TTN):c.47343dup (p.Pro15782fs)
NM_001267550.2(TTN):c.47794_47797del (p.Tyr15932fs) rs2057499617
NM_001267550.2(TTN):c.48499C>T (p.Arg16167Ter) rs1312425985
NM_001267550.2(TTN):c.54812-1G>A
NM_001267550.2(TTN):c.57558del (p.Val19187fs) rs1576186406
NM_001267550.2(TTN):c.58870C>T (p.Arg19624Ter) rs1553649171
NM_001267550.2(TTN):c.62722C>T (p.Arg20908Ter) rs543860009
NM_001267550.2(TTN):c.63132del (p.Ile21044fs)
NM_001267550.2(TTN):c.63382A>T (p.Lys21128Ter)
NM_001267550.2(TTN):c.65040G>A (p.Trp21680Ter)
NM_001267550.2(TTN):c.65060del (p.Gly21687fs)
NM_001267550.2(TTN):c.65194_65197del (p.Phe21732fs)
NM_001267550.2(TTN):c.65491C>T (p.Gln21831Ter)
NM_001267550.2(TTN):c.65856dup (p.Val21953fs)
NM_001267550.2(TTN):c.66161-1G>C rs1553627403
NM_001267550.2(TTN):c.68641C>T (p.Arg22881Ter) rs1213930919
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001267550.2(TTN):c.72829_72830del (p.Leu24277fs) rs1575772888
NM_001267550.2(TTN):c.76593_76596del (p.Val25532fs)
NM_001267550.2(TTN):c.82466_82467insT (p.Trp27490fs)
NM_001267550.2(TTN):c.83439T>G (p.Tyr27813Ter) rs569816178
NM_001267550.2(TTN):c.83515C>T (p.Arg27839Ter) rs869312118
NM_001267550.2(TTN):c.85547del (p.Leu28516fs)
NM_001267550.2(TTN):c.86184del (p.Asn28729fs) rs1575608312
NM_001267550.2(TTN):c.87295_87296insT (p.Asn29099fs)
NM_001267550.2(TTN):c.88009+2T>G rs1701869111
NM_001267550.2(TTN):c.91571dup (p.Ile30525fs) rs1698824634
NM_001267550.2(TTN):c.95416+1G>C
NM_001267550.2(TTN):c.97320del (p.Asp32441fs)
NM_001267550.2(TTN):c.97588dup (p.Gln32530fs) rs2154141656
NM_001267550.2(TTN):c.97650_97653del (p.Asn32550fs)
NM_001267550.2(TTN):c.97707dup (p.Tyr32570fs) rs2154141555
NM_001267550.2(TTN):c.99187_99205del (p.Leu33063fs) rs1692862061

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