ClinVar Miner

List of variants studied for Early-onset myopathy with fatal cardiomyopathy by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.42851G>A (p.Arg14284His) rs368572799 0.00004
NM_001267550.2(TTN):c.57970C>T (p.Arg19324Trp) rs1203435642 0.00001
NM_001267550.2(TTN):c.3487G>A (p.Gly1163Arg) rs1554015228
NM_001267550.2(TTN):c.34922del (p.Pro11641fs) rs1553809971

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