List of variants in gene MYBPC3 reported as pathogenic by Genome Diagnostics Laboratory, University Medical Center Utrecht

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: 24

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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.1831G>A (p.Glu611Lys)	rs730880555	0.00005
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.3190+5G>A	rs587782958	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.3776del (p.Gln1259fs)	rs727503166	0.00001
NM_000256.3(MYBPC3):c.1404del (p.Gln469fs)	rs886037900
NM_000256.3(MYBPC3):c.1791-1G>A	rs2142859427
NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp)	rs775404728
NM_000256.3(MYBPC3):c.2749del (p.Val917fs)	rs2142853029
NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter)	rs397515992
NM_000256.3(MYBPC3):c.3257_3258dup (p.Lys1087fs)	rs2142850930
NM_000256.3(MYBPC3):c.3330+5G>C	rs373746463
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.676_701dup (p.Gly235fs)	rs786204329
NM_000256.3(MYBPC3):c.932C>A (p.Ser311Ter)	rs193922386

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