ClinVar Miner

List of variants in gene combination LOC129935183, TTN reported as pathogenic for Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.105805del (p.Thr35269fs)	rs752787097	0.00001
NM_001267550.2(TTN):c.105935T>G (p.Leu35312Ter)	rs779948923	0.00001

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