ClinVar Miner

List of variants in gene TTN reported as likely pathogenic by CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario

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Total variants: 18
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HGVS dbSNP
NM_001256850.1(TTN):c.47678T>A (p.Leu15893Ter)
NM_001256850.1(TTN):c.49459-12_49464delinsCT
NM_001256850.1(TTN):c.53809+2T>C rs869312054
NM_001256850.1(TTN):c.55476del rs727504466
NM_001256850.1(TTN):c.64181dup (p.Thr21395Asnfs)
NM_001256850.1(TTN):c.65822dup (p.Thr21942Hisfs)
NM_001256850.1(TTN):c.79133C>A (p.Ser26378Ter) rs769665204
NM_001256850.1(TTN):c.80587G>T (p.Glu26863Ter) rs876657670
NM_001256850.1(TTN):c.95964G>A (p.Trp31988Ter)
NM_001256850.1:c.1558del
NM_001256850.1:c.40835_40841del
NM_001256850.1:c.58440_58444del
NM_001256850.1:c.82431del
NM_001256850.1:c.86621_86631del
NM_001267550.2(TTN):c.101107C>T (p.Arg33703Ter) rs766265889
NM_001267550.2(TTN):c.56741delC (p.Ser18914Phefs) rs1553663867
NM_001267550.2(TTN):c.60307A>T (p.Arg20103Ter) rs1553644307
NM_133378.4(TTN):c.38532C>A rs368200299

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