List of variants in gene TTN reported as likely pathogenic by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.34612+1G>A	rs577363824	0.00001
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter)	rs140743001	0.00001
NM_001267550.2(TTN):c.102523C>T (p.Arg34175Ter)	rs752697861
NM_001267550.2(TTN):c.103857G>A (p.Trp34619Ter)	rs1575253896
NM_001267550.2(TTN):c.104950del (p.Glu34984fs)	rs727503533
NM_001267550.2(TTN):c.12268C>T (p.Gln4090Ter)	rs1574087037
NM_001267550.2(TTN):c.12523_12524del (p.Gln4175fs)	rs1574083547
NM_001267550.2(TTN):c.22745_22746del (p.Ser7582fs)	rs779549899
NM_001267550.2(TTN):c.40621A>T (p.Lys13541Ter)	rs869238992
NM_001267550.2(TTN):c.42315_42318del (p.Lys14105fs)	rs878854371
NM_001267550.2(TTN):c.45989dup (p.Thr15331fs)	rs1553715911
NM_001267550.2(TTN):c.65655del (p.Thr21886fs)	rs1575948935
NM_001267550.2(TTN):c.66770-2A>C	rs1553624468

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