ClinVar Miner

List of variants in gene MYBPC3 reported as pathogenic by Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485 0.00009
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374 0.00006
NM_000256.3(MYBPC3):c.3330+2T>G rs387906397 0.00004
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074 0.00004
NM_000256.3(MYBPC3):c.26-2A>G rs376395543 0.00002
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu) rs397516068 0.00002
NM_000256.3(MYBPC3):c.927-9G>A rs397516083 0.00002
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter) rs121909377 0.00001
NM_000256.3(MYBPC3):c.821+1G>A rs397516073 0.00001
NC_000011.10:g.47332110del rs727503166
NC_000011.10:g.47347670del rs727503212
NM_000256.3(MYBPC3):c.177_187del (p.Glu60fs) rs397515925

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