ClinVar Miner

List of variants in gene RAF1 studied for Moyamoya syndrome

Included ClinVar conditions (47):
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Gene type:
ClinVar version:
Total variants: 99
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HGVS dbSNP
NC_000003.12:g.12664140G>C
NM_001354689.3(RAF1):c.*110T>C
NM_001354689.3(RAF1):c.*113T>G rs886057914
NM_001354689.3(RAF1):c.*120C>A
NM_001354689.3(RAF1):c.*160C>T rs5746246
NM_001354689.3(RAF1):c.*162T>C rs886057913
NM_001354689.3(RAF1):c.*190G>A rs528863135
NM_001354689.3(RAF1):c.*266C>T rs1051208
NM_001354689.3(RAF1):c.*348T>C rs5746247
NM_001354689.3(RAF1):c.*404G>A
NM_001354689.3(RAF1):c.*410A>G
NM_001354689.3(RAF1):c.*495C>T rs12808
NM_001354689.3(RAF1):c.*556G>A rs187286358
NM_001354689.3(RAF1):c.*606A>G rs556460176
NM_001354689.3(RAF1):c.*627C>T rs879160471
NM_001354689.3(RAF1):c.*628G>T
NM_001354689.3(RAF1):c.*630A>G
NM_001354689.3(RAF1):c.*640T>C rs759464247
NM_001354689.3(RAF1):c.*643C>G
NM_001354689.3(RAF1):c.*647G>T
NM_001354689.3(RAF1):c.*706C>T
NM_001354689.3(RAF1):c.*729_*732AACA[4] rs371820097
NM_001354689.3(RAF1):c.*729_*732AACA[6] rs371820097
NM_001354689.3(RAF1):c.*73T>A
NM_001354689.3(RAF1):c.*83C>T rs2229757
NM_001354689.3(RAF1):c.-107C>T
NM_001354689.3(RAF1):c.-110G>A rs886057917
NM_001354689.3(RAF1):c.-139T>G rs886057918
NM_001354689.3(RAF1):c.-146C>G rs886057919
NM_001354689.3(RAF1):c.-181T>C rs886057920
NM_001354689.3(RAF1):c.-201C>A rs532668125
NM_001354689.3(RAF1):c.-204G>C rs547543588
NM_001354689.3(RAF1):c.-209G>A rs727504351
NM_001354689.3(RAF1):c.-264C>G
NM_001354689.3(RAF1):c.-267G>A rs116247741
NM_001354689.3(RAF1):c.-27+7G>A rs886057916
NM_001354689.3(RAF1):c.-281C>G rs61761285
NM_001354689.3(RAF1):c.-53G>A
NM_001354689.3(RAF1):c.-59C>G
NM_001354689.3(RAF1):c.1142G>C (p.Gly381Ala) rs397516813
NM_001354689.3(RAF1):c.119G>A (p.Arg40His) rs192632236
NM_001354689.3(RAF1):c.122G>A (p.Arg41Gln) rs145611571
NM_001354689.3(RAF1):c.1232G>T (p.Arg411Met) rs587782972
NM_001354689.3(RAF1):c.124G>A (p.Ala42Thr) rs200856000
NM_001354689.3(RAF1):c.125C>T (p.Ala42Val) rs11549992
NM_001354689.3(RAF1):c.1352A>C (p.Lys451Thr)
NM_001354689.3(RAF1):c.1483T>C (p.Phe495Leu) rs730881003
NM_001354689.3(RAF1):c.1517A>G (p.Asp506Gly) rs397516815
NM_001354689.3(RAF1):c.1527G>C (p.Leu509Phe) rs1553610155
NM_001354689.3(RAF1):c.1532C>G (p.Thr511Arg) rs80338799
NM_001354689.3(RAF1):c.1532C>T (p.Thr511Ile) rs80338799
NM_001354689.3(RAF1):c.1689G>C (p.Thr563=) rs5746244
NM_001354689.3(RAF1):c.1729-13T>C rs147475396
NM_001354689.3(RAF1):c.1781A>G (p.Tyr594Cys) rs370242565
NM_001354689.3(RAF1):c.1815A>G (p.Val605=) rs3730296
NM_001354689.3(RAF1):c.1874C>T (p.Ser625Phe) rs730881004
NM_001354689.3(RAF1):c.1890A>G (p.Gln630=) rs141791080
NM_001354689.3(RAF1):c.1897C>G (p.Leu633Val) rs80338797
NM_001354689.3(RAF1):c.1974G>A (p.Thr658=) rs144876026
NM_001354689.3(RAF1):c.2001C>T (p.Val667=) rs3730297
NM_001354689.3(RAF1):c.21T>C (p.Ala7=) rs886057915
NM_001354689.3(RAF1):c.231C>T (p.Ser77=) rs1450510914
NM_001354689.3(RAF1):c.285C>G (p.Cys95Trp) rs727503384
NM_001354689.3(RAF1):c.321-14T>A rs3730270
NM_001354689.3(RAF1):c.321-21dup rs202103447
NM_001354689.3(RAF1):c.452T>C (p.Phe151Ser) rs587782971
NM_001354689.3(RAF1):c.462C>G (p.Ile154Met) rs367732360
NM_001354689.3(RAF1):c.505G>C (p.Gly169Arg) rs886039607
NM_001354689.3(RAF1):c.524A>G (p.His175Arg) rs397516822
NM_001354689.3(RAF1):c.600T>C (p.Thr200=) rs779808613
NM_001354689.3(RAF1):c.601A>G (p.Ile201Val) rs757700986
NM_001354689.3(RAF1):c.654A>G (p.Arg218=)
NM_001354689.3(RAF1):c.659_660del (p.Ser220fs) rs1575577384
NM_001354689.3(RAF1):c.680+6T>C rs371846795
NM_001354689.3(RAF1):c.766A>G (p.Arg256Gly) rs397516825
NM_001354689.3(RAF1):c.768G>C (p.Arg256Ser) rs397516826
NM_001354689.3(RAF1):c.768G>T (p.Arg256Ser) rs397516826
NM_001354689.3(RAF1):c.769T>C (p.Ser257Pro) rs727505017
NM_001354689.3(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_001354689.3(RAF1):c.775T>A (p.Ser259Thr) rs3730271
NM_001354689.3(RAF1):c.775T>C (p.Ser259Pro) rs3730271
NM_001354689.3(RAF1):c.776C>G (p.Ser259Cys) rs397516827
NM_001354689.3(RAF1):c.776C>T (p.Ser259Phe) rs397516827
NM_001354689.3(RAF1):c.781C>A (p.Pro261Thr) rs121434594
NM_001354689.3(RAF1):c.781C>G (p.Pro261Ala) rs121434594
NM_001354689.3(RAF1):c.781C>T (p.Pro261Ser) rs121434594
NM_001354689.3(RAF1):c.782C>G (p.Pro261Arg) rs397516828
NM_001354689.3(RAF1):c.782C>T (p.Pro261Leu) rs397516828
NM_001354689.3(RAF1):c.786T>A (p.Asn262Lys) rs397516829
NM_001354689.3(RAF1):c.788T>A (p.Val263Asp) rs397516830
NM_001354689.3(RAF1):c.788T>C (p.Val263Ala) rs397516830
NM_001354689.3(RAF1):c.788T>G (p.Val263Gly) rs397516830
NM_001354689.3(RAF1):c.903T>A (p.Ile301=)
NM_001354689.3(RAF1):c.969A>C (p.Thr323=) rs5746219
NM_001354689.3(RAF1):c.983C>T (p.Pro328Leu) rs5746220
NM_001354689.3(RAF1):c.993C>T (p.Pro331=) rs1553613022
NM_001354689.3(RAF1):c.994G>A (p.Val332Met) rs555034652
NM_002880.3(RAF1):c.-339_-338AG[1] rs527774250
NM_002880.3(RAF1):c.-415-1C>G rs61730434

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