ClinVar Miner

List of variants 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 by Division of Human Genetics, Children's Hospital of Philadelphia

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.98960C>T (p.Ser32987Phe) rs746380940 0.00015
NM_001267550.2(TTN):c.16825G>A (p.Glu5609Lys) rs374682077 0.00009
NM_001267550.2(TTN):c.40558+1G>A rs368219776 0.00004
NM_001267550.2(TTN):c.89221dup (p.Ile29741fs) rs1553543413

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