List of variants in gene combination LOC126806427, TTN reported as pathogenic for hereditary skeletal muscle disorder

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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: 3

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly)	rs201057307	0.00033
NM_001267550.2(TTN):c.45307C>T (p.Arg15103Ter)	rs397517580	0.00001
NM_001267550.2(TTN):c.45055A>T (p.Arg15019Ter)	rs2154212373

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