ClinVar Miner

List of variants in gene RAF1 studied for Moyamoya syndrome

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 69
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HGVS dbSNP
NM_002880.3(RAF1):c.*113T>G rs886057914
NM_002880.3(RAF1):c.*160C>T rs5746246
NM_002880.3(RAF1):c.*162T>C rs886057913
NM_002880.3(RAF1):c.*190G>A rs528863135
NM_002880.3(RAF1):c.*266C>T rs1051208
NM_002880.3(RAF1):c.*348T>C rs5746247
NM_002880.3(RAF1):c.*495C>T rs12808
NM_002880.3(RAF1):c.*556G>A rs187286358
NM_002880.3(RAF1):c.*606A>G rs556460176
NM_002880.3(RAF1):c.*627C>T rs879160471
NM_002880.3(RAF1):c.*640T>C rs759464247
NM_002880.3(RAF1):c.*745_*748delAACA rs371820097
NM_002880.3(RAF1):c.*745_*748dupAACA rs371820097
NM_002880.3(RAF1):c.*83C>T rs2229757
NM_002880.3(RAF1):c.-110G>A rs886057917
NM_002880.3(RAF1):c.-139T>G rs886057918
NM_002880.3(RAF1):c.-146C>G rs886057919
NM_002880.3(RAF1):c.-181T>C rs886057920
NM_002880.3(RAF1):c.-204G>C rs547543588
NM_002880.3(RAF1):c.-267G>A rs116247741
NM_002880.3(RAF1):c.-27+7G>A rs886057916
NM_002880.3(RAF1):c.-281C>G rs61761285
NM_002880.3(RAF1):c.-339_-338AG[1] rs527774250
NM_002880.3(RAF1):c.-415-1C>G rs61730434
NM_002880.3(RAF1):c.1082G>C (p.Gly361Ala) rs397516813
NM_002880.3(RAF1):c.1172G>T (p.Arg391Met) rs587782972
NM_002880.3(RAF1):c.119G>A (p.Arg40His) rs192632236
NM_002880.3(RAF1):c.125C>T (p.Ala42Val) rs11549992
NM_002880.3(RAF1):c.1423T>C (p.Phe475Leu) rs730881003
NM_002880.3(RAF1):c.1457A>G (p.Asp486Gly) rs397516815
NM_002880.3(RAF1):c.1467G>C (p.Leu489Phe) rs1553610155
NM_002880.3(RAF1):c.1472C>G (p.Thr491Arg) rs80338799
NM_002880.3(RAF1):c.1472C>T (p.Thr491Ile) rs80338799
NM_002880.3(RAF1):c.1669-13T>C rs147475396
NM_002880.3(RAF1):c.1721A>G (p.Tyr574Cys) rs370242565
NM_002880.3(RAF1):c.1755A>G (p.Val585=) rs3730296
NM_002880.3(RAF1):c.1814C>T (p.Ser605Phe) rs730881004
NM_002880.3(RAF1):c.1830A>G (p.Gln610=) rs141791080
NM_002880.3(RAF1):c.1837C>G (p.Leu613Val) rs80338797
NM_002880.3(RAF1):c.1914G>A (p.Thr638=) rs144876026
NM_002880.3(RAF1):c.21T>C (p.Ala7=) rs886057915
NM_002880.3(RAF1):c.285C>G (p.Cys95Trp) rs727503384
NM_002880.3(RAF1):c.321-14T>A rs3730270
NM_002880.3(RAF1):c.321-21dup rs202103447
NM_002880.3(RAF1):c.452T>C (p.Phe151Ser) rs587782971
NM_002880.3(RAF1):c.505G>C (p.Gly169Arg) rs886039607
NM_002880.3(RAF1):c.524A>G (p.His175Arg) rs397516822
NM_002880.3(RAF1):c.601A>G (p.Ile201Val) rs757700986
NM_002880.3(RAF1):c.680+6T>C rs371846795
NM_002880.3(RAF1):c.766A>G (p.Arg256Gly) rs397516825
NM_002880.3(RAF1):c.768G>C (p.Arg256Ser) rs397516826
NM_002880.3(RAF1):c.768G>T (p.Arg256Ser) rs397516826
NM_002880.3(RAF1):c.769T>C (p.Ser257Pro) rs727505017
NM_002880.3(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002880.3(RAF1):c.775T>A (p.Ser259Thr) rs3730271
NM_002880.3(RAF1):c.775T>C (p.Ser259Pro) rs3730271
NM_002880.3(RAF1):c.776C>G (p.Ser259Cys) rs397516827
NM_002880.3(RAF1):c.776C>T (p.Ser259Phe) rs397516827
NM_002880.3(RAF1):c.781C>A (p.Pro261Thr) rs121434594
NM_002880.3(RAF1):c.781C>G (p.Pro261Ala) rs121434594
NM_002880.3(RAF1):c.781C>T (p.Pro261Ser) rs121434594
NM_002880.3(RAF1):c.782C>G (p.Pro261Arg) rs397516828
NM_002880.3(RAF1):c.782C>T (p.Pro261Leu) rs397516828
NM_002880.3(RAF1):c.786T>A (p.Asn262Lys) rs397516829
NM_002880.3(RAF1):c.788T>A (p.Val263Asp) rs397516830
NM_002880.3(RAF1):c.788T>C (p.Val263Ala) rs397516830
NM_002880.3(RAF1):c.788T>G (p.Val263Gly) rs397516830
NM_002880.3(RAF1):c.909A>C (p.Thr303=) rs5746219
NM_002880.3(RAF1):c.923C>T (p.Pro308Leu) rs5746220

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