ClinVar Miner

List of variants in gene MYBPC1 reported as benign by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_002465.4(MYBPC1):c.2544T>C (p.Ile848=) rs7139095 0.95112
NM_002465.4(MYBPC1):c.*78G>A rs2764 0.55606
NM_002465.4(MYBPC1):c.774C>T (p.Asp258=) rs2293468 0.29320
NM_002465.4(MYBPC1):c.2817A>G (p.Pro939=) rs764291 0.20383
NM_002465.4(MYBPC1):c.556+10C>G rs61935677 0.20237
NM_002465.4(MYBPC1):c.1518C>G (p.His506Gln) rs3817552 0.14585
NM_002465.4(MYBPC1):c.1386A>T (p.Thr462=) rs825045 0.08992

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