List of variants reported for Cardio-facio-cutaneous syndrome by GenomeConnect - CFC International

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002755.4(MAP2K1):c.374A>G (p.Tyr125Cys)	rs1595861880
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu)	rs121913355
NM_004333.6(BRAF):c.1447A>C (p.Lys483Gln)	rs397507474
NM_004333.6(BRAF):c.1741A>G (p.Asn581Asp)	rs180177040
NM_004333.6(BRAF):c.1802A>T (p.Lys601Ile)	rs397507484
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg)	rs180177035
NM_030662.4(MAP2K2):c.170T>G (p.Phe57Cys)	rs121434497

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.