ClinVar Miner

List of variants in gene RAF1 studied for LEOPARD syndrome 2

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 67
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002880.4(RAF1):c.1755A>G (p.Val585=) rs3730296 0.02125
NM_002880.4(RAF1):c.*348T>C rs5746247 0.01554
NM_002880.4(RAF1):c.-281C>G rs61761285 0.01090
NM_002880.4(RAF1):c.1669-13T>C rs147475396 0.00819
NM_002880.4(RAF1):c.923C>T (p.Pro308Leu) rs5746220 0.00571
NM_002880.4(RAF1):c.*495C>T rs12808 0.00354
NM_002880.4(RAF1):c.*190G>A rs528863135 0.00335
NM_002880.4(RAF1):c.*160C>T rs5746246 0.00295
NM_002880.4(RAF1):c.*110T>C rs550188508 0.00112
NM_002880.4(RAF1):c.1830A>G (p.Gln610=) rs141791080 0.00088
NM_002880.4(RAF1):c.-201C>A rs532668125 0.00073
NM_002880.4(RAF1):c.-209G>A rs727504351 0.00035
NM_002880.4(RAF1):c.321-14T>A rs3730270 0.00032
NM_002880.4(RAF1):c.909A>C (p.Thr303=) rs5746219 0.00025
NM_002880.4(RAF1):c.-181T>C rs886057920 0.00022
NM_002880.4(RAF1):c.124G>A (p.Ala42Thr) rs200856000 0.00021
NM_002880.4(RAF1):c.125C>T (p.Ala42Val) rs11549992 0.00021
NM_002880.4(RAF1):c.119G>A (p.Arg40His) rs192632236 0.00016
NM_002880.4(RAF1):c.122G>A (p.Arg41Gln) rs145611571 0.00016
NM_002880.4(RAF1):c.*113T>G rs886057914 0.00015
NM_002880.4(RAF1):c.*556G>A rs187286358 0.00014
NM_002880.4(RAF1):c.680+6T>C rs371846795 0.00014
NM_002880.4(RAF1):c.*404G>A rs150460686 0.00013
NM_002880.4(RAF1):c.1721A>G (p.Tyr574Cys) rs370242565 0.00012
NM_002880.4(RAF1):c.*627C>T rs879160471 0.00009
NM_002880.4(RAF1):c.*630A>G rs975583754 0.00009
NM_002880.4(RAF1):c.-264C>G rs894363344 0.00008
NM_002880.4(RAF1):c.-53G>A rs985291322 0.00005
NM_002880.3(RAF1):c.-354C>G rs964288487 0.00004
NM_002880.4(RAF1):c.*643C>G rs932173134 0.00004
NM_002880.4(RAF1):c.-110G>A rs886057917 0.00003
NM_002880.4(RAF1):c.600T>C (p.Thr200=) rs779808613 0.00003
NM_002880.4(RAF1):c.*647G>T rs1457071879 0.00002
NM_002880.4(RAF1):c.*706C>T rs1466261579 0.00002
NM_002880.4(RAF1):c.934G>A (p.Val312Met) rs555034652 0.00002
NM_002880.4(RAF1):c.*410A>G rs1055682241 0.00001
NM_002880.4(RAF1):c.*73T>A rs932588742 0.00001
NM_002880.4(RAF1):c.-27+7G>A rs886057916 0.00001
NM_002880.4(RAF1):c.1914G>A (p.Thr638=) rs144876026 0.00001
NM_002880.4(RAF1):c.462C>G (p.Ile154Met) rs367732360 0.00001
NM_002880.4(RAF1):c.654A>G (p.Arg218=) rs898490426 0.00001
NM_002880.4(RAF1):c.933C>T (p.Pro311=) rs1553613022 0.00001
NM_002880.4(RAF1):c.*120C>A rs1575528605
NM_002880.4(RAF1):c.*162T>C rs886057913
NM_002880.4(RAF1):c.*266C>T rs1051208
NM_002880.4(RAF1):c.*606A>G rs556460176
NM_002880.4(RAF1):c.*628G>T rs374944110
NM_002880.4(RAF1):c.*640T>C rs759464247
NM_002880.4(RAF1):c.*83C>T rs2229757
NM_002880.4(RAF1):c.-107C>T rs1451879607
NM_002880.4(RAF1):c.-139T>G rs886057918
NM_002880.4(RAF1):c.-146C>G rs886057919
NM_002880.4(RAF1):c.-204G>C rs547543588
NM_002880.4(RAF1):c.-267G>A rs116247741
NM_002880.4(RAF1):c.-59C>G rs201603517
NM_002880.4(RAF1):c.1082G>C (p.Gly361Ala) rs397516813
NM_002880.4(RAF1):c.1292A>C (p.Lys431Thr) rs747632183
NM_002880.4(RAF1):c.1629G>C (p.Thr543=) rs5746244
NM_002880.4(RAF1):c.1837C>G (p.Leu613Val) rs80338797
NM_002880.4(RAF1):c.21T>C (p.Ala7=) rs886057915
NM_002880.4(RAF1):c.226A>G (p.Met76Val) rs730880999
NM_002880.4(RAF1):c.231C>T (p.Ser77=) rs1450510914
NM_002880.4(RAF1):c.332G>A (p.Arg111His) rs996417348
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002880.4(RAF1):c.773C>G (p.Thr258Arg) rs1575573330
NM_002880.4(RAF1):c.776C>A (p.Ser259Tyr) rs397516827
NM_002880.4(RAF1):c.843T>A (p.Ile281=) rs2058826353

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.