ClinVar Miner

List of variants studied for LEOPARD syndrome 2; Noonan syndrome 5; Dilated cardiomyopathy 1NN by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002880.4(RAF1):c.581+4A>G rs201776526 0.00087
NM_002880.4(RAF1):c.-209G>A rs727504351 0.00035
NM_002880.4(RAF1):c.-181T>C rs886057920 0.00022
NM_002880.4(RAF1):c.834+598G>A rs375404697 0.00009
NM_002880.4(RAF1):c.-264C>G rs894363344 0.00008
NM_002880.4(RAF1):c.1814C>T (p.Ser605Phe) rs730881004 0.00006
NM_002880.4(RAF1):c.*643C>G rs932173134 0.00004
NM_002880.4(RAF1):c.435G>A (p.Thr145=) rs371565419 0.00004
NM_002880.4(RAF1):c.1113T>C (p.Asp371=) rs146668293 0.00002
NM_002880.4(RAF1):c.482A>G (p.Asn161Ser) rs775781057 0.00001
NM_002880.4(RAF1):c.601A>G (p.Ile201Val) rs757700986 0.00001
NM_002880.3(RAF1):c.-340_-339GA[1] rs527774250
NM_002880.4(RAF1):c.-204G>C rs547543588
NM_002880.4(RAF1):c.-59C>G rs201603517
NM_002880.4(RAF1):c.1463G>A (p.Gly488Asp) rs865862568
NM_002880.4(RAF1):c.1770G>C (p.Lys590Asn) rs773583951
NM_002880.4(RAF1):c.1867C>T (p.Pro623Ser) rs373596121
NM_002880.4(RAF1):c.438C>A (p.Phe146Leu) rs794727717
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002880.4(RAF1):c.781C>G (p.Pro261Ala) rs121434594
NM_002880.4(RAF1):c.788T>A (p.Val263Asp) rs397516830

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.