List of variants in gene MYBPC3 reported as pathogenic by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 37

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HGVS	dbSNP	gnomAD frequency
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg)	rs397516050	0.00011
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln)	rs121909374	0.00006
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys)	rs730880555	0.00005
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)	rs200411226	0.00004
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys)	rs397516074	0.00004
NM_000256.3(MYBPC3):c.3181C>T (p.Gln1061Ter)	rs397516005	0.00003
NM_000256.3(MYBPC3):c.927-2A>G	rs397516082	0.00003
NM_000256.3(MYBPC3):c.1458-6G>A	rs375347534	0.00002
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn)	rs36211723	0.00002
NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs)	rs397515963	0.00002
NM_000256.3(MYBPC3):c.26-2A>G	rs376395543	0.00002
NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter)	rs387907267	0.00002
NM_000256.3(MYBPC3):c.1458-1G>C	rs397515903	0.00001
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs)	rs397515990	0.00001
NM_000256.3(MYBPC3):c.3490+1G>T	rs397516020	0.00001
NM_000256.3(MYBPC3):c.3776del (p.Gln1259fs)	rs727503166	0.00001
NM_000256.3(MYBPC3):c.821+1G>A	rs397516073	0.00001
NM_000256.3(MYBPC3):c.1000G>T (p.Glu334Ter)	rs573916965
NM_000256.3(MYBPC3):c.1224-2A>G	rs397515891
NM_000256.3(MYBPC3):c.1404del (p.Gln469fs)	rs886037900
NM_000256.3(MYBPC3):c.1624+1G>A	rs1252584025
NM_000256.3(MYBPC3):c.1696T>C (p.Cys566Arg)	rs730880695
NM_000256.3(MYBPC3):c.1791-1G>A	rs2142859427
NM_000256.3(MYBPC3):c.1800del (p.Lys600fs)	rs397515926
NM_000256.3(MYBPC3):c.2149-2del	rs1555121488
NM_000256.3(MYBPC3):c.2308+1G>A	rs112738974
NM_000256.3(MYBPC3):c.2737+1G>A	rs727504314
NM_000256.3(MYBPC3):c.2780_2781del (p.Thr927fs)	rs727504265
NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter)	rs397515992
NM_000256.3(MYBPC3):c.313del (p.Ala105fs)	rs1565631424
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del)	rs730880674
NM_000256.3(MYBPC3):c.481C>T (p.Pro161Ser)	rs397516053
NM_000256.3(MYBPC3):c.654+1G>A	rs730880621
NM_000256.3(MYBPC3):c.688del (p.Gln230fs)	rs2142866326
NM_000256.3(MYBPC3):c.884del (p.Phe295fs)	rs730880684
NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs)	rs397516080
NM_000256.3(MYBPC3):c.932C>A (p.Ser311Ter)	rs193922386

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