ClinVar Miner

List of variants in gene MYBPC3 reported as pathogenic for Familial hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10

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Total variants: 10
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HGVS dbSNP
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374
NM_000256.3(MYBPC3):c.1928-2A>G rs397515937
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723
NM_000256.3(MYBPC3):c.2449C>T (p.Arg817Trp) rs727503188
NM_000256.3(MYBPC3):c.3190+5G>A rs587782958
NM_000256.3(MYBPC3):c.3330+5G>C rs373746463
NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter) rs397516042
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074
NM_000256.3(MYBPC3):c.927-9G>A rs397516083

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