List of variants in gene combination LOC129935182, 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: 4

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.106154A>C (p.Lys35385Thr)	rs768296130	0.00001
NM_001267550.2(TTN):c.106070_106071del (p.Tyr35357fs)
NM_001267550.2(TTN):c.106137dup (p.Lys35380Ter)	rs886044460
NM_001267550.2(TTN):c.106160C>G (p.Ser35387Ter)	rs2154132755

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