List of variants in gene TTN reported as likely pathogenic for Centronuclear myopathy

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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: 11

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.21961G>A (p.Glu7321Lys)	rs2078691261	0.00001
NM_001267550.2(TTN):c.35828dup (p.Glu11945Argfs)	rs765879488	0.00001
NM_001267550.2(TTN):c.52021C>T (p.Arg17341Ter)	rs926741242	0.00001
NM_001267550.1(TTN):c.107867del	rs878854372
NM_001267550.2(TTN):c.107425del (p.Asp35809fs)
NM_001267550.2(TTN):c.1507C>T (p.Gln503Ter)
NM_001267550.2(TTN):c.30883G>T (p.Glu10295Ter)
NM_001267550.2(TTN):c.32312-1G>A	rs2070649864
NM_001267550.2(TTN):c.42598_42599insG (p.Met14200fs)	rs1553742630
NM_001267550.2(TTN):c.71980_71986delinsTA (p.Ala23994_Glu23996delinsTer)	rs794729338
NM_001267550.2(TTN):c.97417del (p.Arg32473fs)

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