ClinVar Miner

List of variants in gene MYBPC3 reported as pathogenic by Center of Genomic medicine, Geneva,University Hospital of Geneva

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Total variants: 12
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HGVS dbSNP
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln) rs397515907
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374
NM_000256.3(MYBPC3):c.1800del (p.Lys600fs) rs397515926
NM_000256.3(MYBPC3):c.1928-2A>G rs397515937
NM_000256.3(MYBPC3):c.2149-2del rs1555121488
NM_000256.3(MYBPC3):c.2766del (p.Gly922_Leu923insTer) rs1565624196
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs) rs397515990
NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter) rs397515992
NM_000256.3(MYBPC3):c.3324_3325del (p.Lys1108fs) rs1060499673
NM_000256.3(MYBPC3):c.3330+2T>G rs387906397
NM_000256.3(MYBPC3):c.3559del (p.Leu1187fs) rs1555120300
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074

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