List of variants in gene TTN reported as likely pathogenic for Autosomal recessive titinopathy

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.36253C>T (p.Gln12085Ter)	rs1384922524	0.00004
NM_001267550.2(TTN):c.9164-2A>T	rs777369921	0.00003
NM_001267550.2(TTN):c.31426+1G>C	rs6749719	0.00001
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter)	rs140743001	0.00001
NM_001267550.2(TTN):c.15775+1G>A	rs1353528319
NM_001267550.2(TTN):c.22745_22746del (p.Ser7582fs)	rs779549899
NM_001267550.2(TTN):c.29621_29624del (p.Glu9874fs)	rs777924443
NM_001267550.2(TTN):c.32922_32923del (p.Thr10975fs)
NM_001267550.2(TTN):c.36532+2T>G
NM_001267550.2(TTN):c.39709+1G>A

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