ClinVar Miner

List of variants studied for Early-onset myopathy with fatal cardiomyopathy by 3billion

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.35678C>G (p.Thr11893Ser) rs750832804 0.00001
NM_001267550.2(TTN):c.107153dup (p.Asn35718fs) rs2468294294
NM_001267550.2(TTN):c.11254+1G>C
NM_001267550.2(TTN):c.26028G>A (p.Trp8676Ter) rs794729389
NM_001267550.2(TTN):c.3425dup (p.Ile1143fs) rs2533252843
NM_001267550.2(TTN):c.35851del (p.Arg11951fs)
NM_001267550.2(TTN):c.74338C>T (p.Arg24780Ter) rs794729285

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