ClinVar Miner

List of variants in gene combination LOC101927055, TTN reported as likely benign 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

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.3876A>G (p.Gly1292=) rs755784209 0.00001
NM_001267550.2(TTN):c.4314C>T (p.Ser1438=) rs764817754 0.00001
NM_001267550.2(TTN):c.4814+9G>C rs768137657

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