ClinVar Miner

List of variants in gene MYBPC1 reported by Preventiongenetics, part of Exact Sciences

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Total variants: 18
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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.774C>T (p.Asp258=) rs2293468 0.29320
NM_002465.4(MYBPC1):c.1634-18del rs3835190 0.22202
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
NM_002465.4(MYBPC1):c.2809+12T>C rs11110952 0.01947
NM_002465.4(MYBPC1):c.26-9C>T rs181619118 0.00935
NM_002465.4(MYBPC1):c.2010C>T (p.Tyr670=) rs77045393 0.00802
NM_002465.4(MYBPC1):c.191T>C (p.Val64Ala) rs149213047 0.00398
NM_002465.4(MYBPC1):c.1928-19T>G rs189706863 0.00307
NM_002465.4(MYBPC1):c.420C>T (p.Thr140=) rs140667525 0.00188
NM_002465.4(MYBPC1):c.179-20_179-12del rs200288633
NM_002465.4(MYBPC1):c.2676A>G (p.Ile892Met)
NM_002465.4(MYBPC1):c.2902G>C (p.Ala968Pro)
NM_002465.4(MYBPC1):c.3293C>T (p.Pro1098Leu)
NM_002465.4(MYBPC1):c.788T>G (p.Leu263Arg) rs1565943228

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