ClinVar Miner

List of variants studied for Hypertrophic cardiomyopathy 4 by Clinical Genomics Laboratory, Washington University in St. Louis

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Total variants: 5
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HGVS dbSNP gnomAD frequency
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.1123G>A (p.Val375Met) rs727503208 0.00002
NM_000256.3(MYBPC3):c.3226_3227insT (p.Asp1076fs) rs397516008 0.00001
NM_000256.3(MYBPC3):c.1372C>A (p.Arg458Ser)

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