ClinVar Miner

List of variants studied for Hypertrophic cardiomyopathy 4 by Centogene AG - the Rare Disease Company

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.927-9G>A rs397516083 0.00002
NM_000256.3(MYBPC3):c.1678del (p.Asp560fs) rs727504366
NM_000256.3(MYBPC3):c.1927+1G>T rs2142859053
NM_000256.3(MYBPC3):c.2965G>A (p.Glu989Lys) rs727503178

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