ClinVar Miner

List of variants studied for Early-onset myopathy with fatal cardiomyopathy by OMIM

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.102214T>C (p.Trp34072Arg) rs375159973 0.00002
NM_001267550.2(TTN):c.105528_105535del (p.Gln35176fs) rs199469665
NM_001267550.2(TTN):c.9163+1G>C rs1060500549
TTN:c.106668delA (p.Lys35556Argfs) rs587776772

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