ClinVar Miner

List of variants studied for Hypertrophic cardiomyopathy 4 by Center for Medical Genetics Ghent, University of Ghent

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NC_000011.10:g.47337730dup rs397515963 0.00002
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723 0.00002
NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter) rs387907267 0.00002
NM_000256.3(MYBPC3):c.1928-2A>G rs397515937 0.00001
NC_000011.10:g.47348498_47348523dup rs786204329
NM_000256.3(MYBPC3):c.1404delG rs886037900
NM_000256.3(MYBPC3):c.332_335dup (p.Glu112delinsAspTer) rs886037901
NM_000256.3(MYBPC3):c.821+5G>A rs397516077
NM_000256.3(MYBPC3):c.927_928delGG rs886037902

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