ClinVar Miner

List of variants studied for Hypertrophic cardiomyopathy 4 by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) rs397515912 0.00006
NM_000256.3(MYBPC3):c.1669G>T (p.Gly557Cys) rs730880693
NM_000256.3(MYBPC3):c.3784_3795del (p.Ala1262_Glu1265del)
NM_000256.3(MYBPC3):c.821+5G>A rs397516077

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