List of variants in gene MYBPC3 reported by Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000256.3(MYBPC3):c.557C>T (p.Pro186Leu)	rs727503216	0.00004
NM_000256.3(MYBPC3):c.3143G>A (p.Arg1048His)	rs769018051	0.00002
NM_000256.3(MYBPC3):c.1037G>A (p.Arg346His)	rs397515883	0.00001
NM_000256.3(MYBPC3):c.1297G>A (p.Ala433Thr)	rs2095890714	0.00001
NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter)	rs368765949	0.00001
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter)	rs397516037	0.00001
NM_000256.3(MYBPC3):c.2162C>T (p.Thr721Ile)	rs1293844338
NM_000256.3(MYBPC3):c.2217G>A (p.Glu739=)	rs786204348
NM_000256.3(MYBPC3):c.2893C>T (p.Gln965Ter)	rs730880578
NM_000256.3(MYBPC3):c.93C>A (p.Ala31=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.