List of variants in gene LOC126806425, TTN studied for Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.53288-18G>T	rs72646810	0.00643
NM_001267550.2(TTN):c.53159T>C (p.Ile17720Thr)	rs201358641	0.00031
NM_001267550.2(TTN):c.53060G>T (p.Gly17687Val)	rs780672348	0.00004
NM_001267550.2(TTN):c.53213A>T (p.Asp17738Val)	rs773447539	0.00004
NM_001267550.2(TTN):c.52706C>A (p.Ser17569Tyr)	rs756689649	0.00003
NM_001267550.2(TTN):c.52831G>A (p.Val17611Ile)	rs748265704	0.00003
NM_001267550.2(TTN):c.52788T>A (p.Asn17596Lys)	rs375966756	0.00002
NM_001267550.2(TTN):c.52880G>A (p.Arg17627His)	rs536494011	0.00002
NM_001267550.2(TTN):c.52553G>A (p.Arg17518His)	rs559590585	0.00001
NM_001267550.2(TTN):c.53149C>T (p.Arg17717Cys)	rs369001587	0.00001
NM_001267550.2(TTN):c.53207G>A (p.Arg17736Gln)	rs766817830	0.00001
NM_001267550.2(TTN):c.53122_53123delinsGT (p.Lys17708Val)	rs886042743

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