List of variants studied for cardiofaciocutaneous syndrome 4 by Fulgent Genetics, Fulgent Genetics

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

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp)	rs144383241	0.00222
NM_030662.4(MAP2K2):c.450+17C>T	rs199892711	0.00021
NM_030662.4(MAP2K2):c.919+4C>T	rs763424788	0.00009
NM_030662.4(MAP2K2):c.890G>A (p.Arg297Gln)	rs140111079	0.00006
NM_030662.4(MAP2K2):c.1187C>T (p.Thr396Met)	rs117945277	0.00004
NM_030662.4(MAP2K2):c.938G>A (p.Arg313Gln)	rs151133017	0.00004
NM_030662.4(MAP2K2):c.217G>A (p.Glu73Lys)	rs187018595	0.00003
NM_030662.4(MAP2K2):c.528G>A (p.Ala176=)	rs767939999	0.00002
NM_030662.4(MAP2K2):c.535C>T (p.Arg179Trp)	rs370799450	0.00002
NM_030662.4(MAP2K2):c.247G>A (p.Gly83Ser)	rs765755554	0.00001
NM_030662.4(MAP2K2):c.400T>C (p.Tyr134His)	rs121434499
NM_030662.4(MAP2K2):c.969C>G (p.Asp323Glu)	rs768656734

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.