ClinVar Miner

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

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Gene type:
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Total variants: 23
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HGVS dbSNP gnomAD frequency
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.47494C>T (p.Arg15832Ter) rs751746401 0.00001
NM_001256850.1(TTN):c.86916dup (p.Val28973fs) rs730880365
NM_001267550.2(TTN):c.103043_103044insA (p.Thr34349fs) rs1690115787
NM_001267550.2(TTN):c.49345+1G>A rs2056846558
NM_001267550.2(TTN):c.50083C>T (p.Arg16695Ter) rs751502842
NM_001267550.2(TTN):c.51739+1G>C rs727504799
NM_001267550.2(TTN):c.53653G>T (p.Glu17885Ter) rs727503607
NM_001267550.2(TTN):c.61495C>T (p.Arg20499Ter) rs869312112
NM_001267550.2(TTN):c.65146dup (p.Ser21716fs) rs2154179780
NM_001267550.2(TTN):c.65837C>G (p.Ser21946Ter)
NM_001267550.2(TTN):c.68449C>T (p.Arg22817Ter) rs371678190
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001267550.2(TTN):c.76115dup (p.Asn25372fs) rs774604740
NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter) rs869178171
NM_001267550.2(TTN):c.84819G>A (p.Trp28273Ter) rs72648222
NM_001267550.2(TTN):c.86076dup (p.Ser28693fs) rs1285329277
NM_001267550.2(TTN):c.86387_86391del (p.Arg28796fs) rs794729354
NM_001267550.2(TTN):c.93396_93400del (p.Ala31133_Trp31134insTer) rs886044536
NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg) rs869320740
NM_001267550.2(TTN):c.95872C>T (p.Arg31958Ter) rs2154144218
NM_001267550.2(TTN):c.97492+1G>C rs727505319

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