ClinVar Miner

List of variants in gene RAF1 studied for cardiomyopathy

Included ClinVar conditions (522):
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Gene type:
ClinVar version:
Total variants: 175
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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_002880.3(RAF1):c.-415-1C>G rs61730434 0.01127
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.581+4A>G rs201776526 0.00087
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.576A>G (p.Gln192=) rs148759910 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.94A>G (p.Ile32Val) rs372738063 0.00013
NM_002880.4(RAF1):c.1721A>G (p.Tyr574Cys) rs370242565 0.00012
NM_002880.4(RAF1):c.935T>C (p.Val312Ala) rs370243307 0.00010
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.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.-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.435G>A (p.Thr145=) rs371565419 0.00004
NM_002880.4(RAF1):c.853A>G (p.Ser285Gly) rs150054973 0.00004
NM_002880.4(RAF1):c.-110G>A rs886057917 0.00003
NM_002880.4(RAF1):c.1879C>T (p.Arg627Trp) rs730881005 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.1113T>C (p.Asp371=) rs146668293 0.00002
NM_002880.4(RAF1):c.293T>C (p.Val98Ala) rs763559779 0.00002
NM_002880.4(RAF1):c.917C>T (p.Ser306Leu) rs886041231 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.1141G>A (p.Asp381Asn) rs559632360 0.00001
NM_002880.4(RAF1):c.1150C>G (p.Pro384Ala) rs140788943 0.00001
NM_002880.4(RAF1):c.1334T>G (p.Leu445Arg) rs757591797 0.00001
NM_002880.4(RAF1):c.1657A>C (p.Asn553His) rs745876012 0.00001
NM_002880.4(RAF1):c.1901T>C (p.Ile634Thr) rs1013186582 0.00001
NM_002880.4(RAF1):c.1914G>A (p.Thr638=) rs144876026 0.00001
NM_002880.4(RAF1):c.1922C>T (p.Thr641Met) rs587777587 0.00001
NM_002880.4(RAF1):c.236A>G (p.His79Arg) rs1387880716 0.00001
NM_002880.4(RAF1):c.29C>T (p.Thr10Met) rs144637992 0.00001
NM_002880.4(RAF1):c.31A>T (p.Ile11Phe) rs779001930 0.00001
NM_002880.4(RAF1):c.462C>G (p.Ile154Met) rs367732360 0.00001
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_002880.4(RAF1):c.61G>A (p.Val21Met) rs752484962 0.00001
NM_002880.4(RAF1):c.654A>G (p.Arg218=) rs898490426 0.00001
NM_002880.4(RAF1):c.709G>A (p.Ala237Thr) rs587777588 0.00001
NM_002880.4(RAF1):c.898C>A (p.Leu300Met) rs1183645997 0.00001
NM_002880.4(RAF1):c.933C>T (p.Pro311=) rs1553613022 0.00001
NM_002880.3(RAF1):c.-340_-339GA[1] rs527774250
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.*729AACA[4] rs371820097
NM_002880.4(RAF1):c.*729AACA[6] rs371820097
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.1079T>C (p.Phe360Ser)
NM_002880.4(RAF1):c.1082G>C (p.Gly361Ala) rs397516813
NM_002880.4(RAF1):c.1108+9_1108+21del rs727504451
NM_002880.4(RAF1):c.113A>C (p.Tyr38Ser) rs576041742
NM_002880.4(RAF1):c.1172G>T (p.Arg391Met) rs587782972
NM_002880.4(RAF1):c.1193G>T (p.Arg398Leu) rs730880382
NM_002880.4(RAF1):c.1201C>T (p.Arg401Trp)
NM_002880.4(RAF1):c.1220T>A (p.Leu407His) rs869025502
NM_002880.4(RAF1):c.124_125delinsAT (p.Ala42Ile) rs876657965
NM_002880.4(RAF1):c.1279A>G (p.Ser427Gly) rs730881002
NM_002880.4(RAF1):c.1292A>C (p.Lys431Thr) rs747632183
NM_002880.4(RAF1):c.1353G>C (p.Gln451His)
NM_002880.4(RAF1):c.1371C>G (p.Asp457Glu) rs2125332052
NM_002880.4(RAF1):c.1418A>G (p.Asn473Ser)
NM_002880.4(RAF1):c.1423T>C (p.Phe475Leu) rs730881003
NM_002880.4(RAF1):c.1432G>A (p.Glu478Lys)
NM_002880.4(RAF1):c.1456G>A (p.Asp486Asn) rs80338798
NM_002880.4(RAF1):c.1457A>G (p.Asp486Gly) rs397516815
NM_002880.4(RAF1):c.1463G>A (p.Gly488Asp) rs865862568
NM_002880.4(RAF1):c.1466T>C (p.Leu489Ser)
NM_002880.4(RAF1):c.1467G>C (p.Leu489Phe) rs1553610155
NM_002880.4(RAF1):c.1467G>T (p.Leu489Phe) rs1553610155
NM_002880.4(RAF1):c.1472C>G (p.Thr491Arg) rs80338799
NM_002880.4(RAF1):c.1472C>T (p.Thr491Ile) rs80338799
NM_002880.4(RAF1):c.1488G>T (p.Trp496Cys)
NM_002880.4(RAF1):c.161C>A (p.Thr54Lys) rs754798801
NM_002880.4(RAF1):c.1629G>A (p.Thr543=) rs5746244
NM_002880.4(RAF1):c.1629G>C (p.Thr543=) rs5746244
NM_002880.4(RAF1):c.1668+10_1668+11del rs730880997
NM_002880.4(RAF1):c.176G>A (p.Arg59His) rs1559447623
NM_002880.4(RAF1):c.1770G>C (p.Lys590Asn) rs773583951
NM_002880.4(RAF1):c.1808T>C (p.Leu603Pro) rs587777586
NM_002880.4(RAF1):c.1837C>G (p.Leu613Val) rs80338797
NM_002880.4(RAF1):c.1850A>C (p.Asn617Thr)
NM_002880.4(RAF1):c.1850A>T (p.Asn617Ile)
NM_002880.4(RAF1):c.1867C>T (p.Pro623Ser) rs373596121
NM_002880.4(RAF1):c.1880G>A (p.Arg627Gln) rs730881006
NM_002880.4(RAF1):c.188C>T (p.Pro63Leu)
NM_002880.4(RAF1):c.1922C>G (p.Thr641Arg) rs587777587
NM_002880.4(RAF1):c.1947G>A (p.Ter649=) rs1471833190
NM_002880.4(RAF1):c.21T>C (p.Ala7=) rs886057915
NM_002880.4(RAF1):c.220A>G (p.Asn74Asp)
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.264G>A (p.Val88=) rs1189963978
NM_002880.4(RAF1):c.285C>G (p.Cys95Trp) rs727503384
NM_002880.4(RAF1):c.321-14dup rs202103447
NM_002880.4(RAF1):c.325_327del (p.Lys109del) rs1418886913
NM_002880.4(RAF1):c.332G>A (p.Arg111His) rs996417348
NM_002880.4(RAF1):c.424-5_424-3del rs764020787
NM_002880.4(RAF1):c.438C>A (p.Phe146Leu) rs794727717
NM_002880.4(RAF1):c.445C>T (p.Leu149Phe) rs1559433480
NM_002880.4(RAF1):c.452T>C (p.Phe151Ser) rs587782971
NM_002880.4(RAF1):c.478C>T (p.Leu160Phe)
NM_002880.4(RAF1):c.492A>G (p.Arg164=) rs2059120434
NM_002880.4(RAF1):c.505G>C (p.Gly169Arg) rs886039607
NM_002880.4(RAF1):c.524A>G (p.His175Arg) rs397516822
NM_002880.4(RAF1):c.545C>T (p.Thr182Ile)
NM_002880.4(RAF1):c.567C>A (p.Asn189Lys) rs2125416422
NM_002880.4(RAF1):c.582-8T>G
NM_002880.4(RAF1):c.602T>C (p.Ile201Thr) rs369852728
NM_002880.4(RAF1):c.659_660del (p.Ser220fs) rs1575577384
NM_002880.4(RAF1):c.766A>G (p.Arg256Gly) rs397516825
NM_002880.4(RAF1):c.767G>C (p.Arg256Thr)
NM_002880.4(RAF1):c.768G>C (p.Arg256Ser) rs397516826
NM_002880.4(RAF1):c.768G>T (p.Arg256Ser) rs397516826
NM_002880.4(RAF1):c.769T>C (p.Ser257Pro) rs727505017
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.775T>A (p.Ser259Thr) rs3730271
NM_002880.4(RAF1):c.775T>C (p.Ser259Pro) rs3730271
NM_002880.4(RAF1):c.775_778delinsAGGG (p.Ser259_Thr260delinsArgAla)
NM_002880.4(RAF1):c.776C>A (p.Ser259Tyr) rs397516827
NM_002880.4(RAF1):c.776C>G (p.Ser259Cys) rs397516827
NM_002880.4(RAF1):c.776C>T (p.Ser259Phe) rs397516827
NM_002880.4(RAF1):c.779C>A (p.Thr260Lys) rs869025501
NM_002880.4(RAF1):c.779C>T (p.Thr260Ile) rs869025501
NM_002880.4(RAF1):c.781C>A (p.Pro261Thr) rs121434594
NM_002880.4(RAF1):c.781C>G (p.Pro261Ala) rs121434594
NM_002880.4(RAF1):c.781C>T (p.Pro261Ser) rs121434594
NM_002880.4(RAF1):c.782C>G (p.Pro261Arg) rs397516828
NM_002880.4(RAF1):c.782C>T (p.Pro261Leu) rs397516828
NM_002880.4(RAF1):c.784A>C (p.Asn262His) rs1575573204
NM_002880.4(RAF1):c.786T>A (p.Asn262Lys) rs397516829
NM_002880.4(RAF1):c.788T>A (p.Val263Asp) rs397516830
NM_002880.4(RAF1):c.788T>C (p.Val263Ala) rs397516830
NM_002880.4(RAF1):c.788T>G (p.Val263Gly) rs397516830
NM_002880.4(RAF1):c.834+662G>T
NM_002880.4(RAF1):c.843T>A (p.Ile281=) rs2058826353
NM_002880.4(RAF1):c.949_950delinsCT (p.Glu317Leu)

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