ClinVar Miner

List of variants in gene RAF1 studied for Noonan syndrome and Noonan-related syndrome

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 219
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HGVS dbSNP
NC_000003.11:g.(?_12626003)_(12660230_?)dup
NC_000003.11:g.(?_12627160)_(12627318_?)dup
NC_000003.12:g.(?_12584504)_(12618731_?)del
NC_000003.12:g.(?_12590788)_(12591802_?)del
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.1008A>G (p.Arg336=)
NM_001354689.3(RAF1):c.1012C>T (p.Arg338Trp)
NM_001354689.3(RAF1):c.1013G>A (p.Arg338Gln)
NM_001354689.3(RAF1):c.1018C>T (p.Pro340Ser)
NM_001354689.3(RAF1):c.1057C>T (p.Arg353Cys) rs551466727
NM_001354689.3(RAF1):c.1058G>T (p.Arg353Leu)
NM_001354689.3(RAF1):c.1079A>G (p.Tyr360Cys)
NM_001354689.3(RAF1):c.1121G>A (p.Arg374Gln)
NM_001354689.3(RAF1):c.113A>C (p.Tyr38Ser) rs576041742
NM_001354689.3(RAF1):c.1142G>C (p.Gly381Ala) rs397516813
NM_001354689.3(RAF1):c.1167C>T (p.His389=)
NM_001354689.3(RAF1):c.1168+9_1168+21del rs727504451
NM_001354689.3(RAF1):c.1173T>C (p.Asp391=) rs146668293
NM_001354689.3(RAF1):c.118C>T (p.Arg40Cys) rs772390935
NM_001354689.3(RAF1):c.119G>A (p.Arg40His) rs192632236
NM_001354689.3(RAF1):c.1201G>A (p.Asp401Asn) rs559632360
NM_001354689.3(RAF1):c.1204C>T (p.Pro402Ser)
NM_001354689.3(RAF1):c.1210C>G (p.Pro404Ala) rs140788943
NM_001354689.3(RAF1):c.1210C>T (p.Pro404Ser)
NM_001354689.3(RAF1):c.122G>A (p.Arg41Gln) rs145611571
NM_001354689.3(RAF1):c.122G>T (p.Arg41Leu) 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.124_125delinsAT (p.Ala42Ile) rs876657965
NM_001354689.3(RAF1):c.1253G>T (p.Arg418Leu) rs730880382
NM_001354689.3(RAF1):c.1254-9C>T rs200322423
NM_001354689.3(RAF1):c.125C>T (p.Ala42Val) rs11549992
NM_001354689.3(RAF1):c.1307A>G (p.Asn436Ser)
NM_001354689.3(RAF1):c.1332C>T (p.Cys444=) rs142942142
NM_001354689.3(RAF1):c.133G>A (p.Asp45Asn)
NM_001354689.3(RAF1):c.1352A>C (p.Lys451Thr)
NM_001354689.3(RAF1):c.1409G>T (p.Arg470Leu) rs886041642
NM_001354689.3(RAF1):c.1415C>T (p.Thr472Met) rs555781462
NM_001354689.3(RAF1):c.1483T>C (p.Phe495Leu) rs730881003
NM_001354689.3(RAF1):c.1491T>C (p.His497=) rs770034641
NM_001354689.3(RAF1):c.1516G>A (p.Asp506Asn) rs80338798
NM_001354689.3(RAF1):c.1517A>G (p.Asp506Gly) rs397516815
NM_001354689.3(RAF1):c.1523G>A (p.Gly508Asp)
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.1577C>T (p.Thr526Ile) rs1315751104
NM_001354689.3(RAF1):c.1597-11_1597-3dup rs730880996
NM_001354689.3(RAF1):c.1616T>G (p.Met539Arg)
NM_001354689.3(RAF1):c.1647G>A (p.Ser549=) rs114687276
NM_001354689.3(RAF1):c.1669G>A (p.Val557Ile)
NM_001354689.3(RAF1):c.1673T>C (p.Leu558Ser)
NM_001354689.3(RAF1):c.1689G>A (p.Thr563=) rs5746244
NM_001354689.3(RAF1):c.1689G>C (p.Thr563=) rs5746244
NM_001354689.3(RAF1):c.16G>A (p.Gly6Arg)
NM_001354689.3(RAF1):c.1712T>A (p.Ile571Asn)
NM_001354689.3(RAF1):c.1715A>G (p.Asn572Ser) rs775817988
NM_001354689.3(RAF1):c.1717A>C (p.Asn573His) rs745876012
NM_001354689.3(RAF1):c.1718A>G (p.Asn573Ser)
NM_001354689.3(RAF1):c.1728+10_1728+11del rs730880997
NM_001354689.3(RAF1):c.1728+1G>A
NM_001354689.3(RAF1):c.1728+4A>G rs771344560
NM_001354689.3(RAF1):c.1729-13T>C rs147475396
NM_001354689.3(RAF1):c.1747C>T (p.Arg583Ter)
NM_001354689.3(RAF1):c.1748G>A (p.Arg583Gln) rs727504827
NM_001354689.3(RAF1):c.1754A>G (p.Tyr585Cys)
NM_001354689.3(RAF1):c.1766_1772dup (p.Ser591delinsArgSerTer)
NM_001354689.3(RAF1):c.1781A>G (p.Tyr594Cys) rs370242565
NM_001354689.3(RAF1):c.1801A>G (p.Met601Val) rs752063874
NM_001354689.3(RAF1):c.1806G>C (p.Lys602Asn)
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.1892A>C (p.His631Pro)
NM_001354689.3(RAF1):c.1897C>G (p.Leu633Val) rs80338797
NM_001354689.3(RAF1):c.1931C>G (p.Ser644Cys) rs1057524239
NM_001354689.3(RAF1):c.1945G>T (p.Ala649Ser)
NM_001354689.3(RAF1):c.1959T>C (p.Asp653=)
NM_001354689.3(RAF1):c.1961T>C (p.Ile654Thr)
NM_001354689.3(RAF1):c.1964A>G (p.Asn655Ser) rs772585174
NM_001354689.3(RAF1):c.1973C>T (p.Thr658Met) rs730881007
NM_001354689.3(RAF1):c.1974G>A (p.Thr658=) rs144876026
NM_001354689.3(RAF1):c.1988C>T (p.Pro663Leu)
NM_001354689.3(RAF1):c.1996C>T (p.Pro666Ser) rs1060503152
NM_001354689.3(RAF1):c.2001C>T (p.Val667=) rs3730297
NM_001354689.3(RAF1):c.2007G>A (p.Ter669=)
NM_001354689.3(RAF1):c.212A>G (p.Asn71Ser) rs184022679
NM_001354689.3(RAF1):c.212A>T (p.Asn71Ile)
NM_001354689.3(RAF1):c.21T>C (p.Ala7=) rs886057915
NM_001354689.3(RAF1):c.226A>G (p.Met76Val) rs730880999
NM_001354689.3(RAF1):c.231C>T (p.Ser77=) rs1450510914
NM_001354689.3(RAF1):c.262G>T (p.Val88Leu) rs1559438429
NM_001354689.3(RAF1):c.285C>G (p.Cys95Trp) rs727503384
NM_001354689.3(RAF1):c.297C>T (p.Phe99=) rs376509458
NM_001354689.3(RAF1):c.306C>G (p.Leu102=)
NM_001354689.3(RAF1):c.309C>G (p.His103Gln) rs1057520880
NM_001354689.3(RAF1):c.30G>A (p.Thr10=) rs140806518
NM_001354689.3(RAF1):c.321-14T>A rs3730270
NM_001354689.3(RAF1):c.321-21dup rs202103447
NM_001354689.3(RAF1):c.365T>C (p.Ile122Thr) rs730881000
NM_001354689.3(RAF1):c.370G>A (p.Glu124Lys) rs1060503153
NM_001354689.3(RAF1):c.41G>A (p.Gly14Asp) rs757333753
NM_001354689.3(RAF1):c.420C>G (p.Asn140Lys) rs775525868
NM_001354689.3(RAF1):c.423T>C (p.Phe141=)
NM_001354689.3(RAF1):c.428G>A (p.Arg143Gln)
NM_001354689.3(RAF1):c.434C>T (p.Thr145Met) rs762448032
NM_001354689.3(RAF1):c.438C>A (p.Phe146Leu) rs794727717
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.482A>G (p.Asn161Ser) rs775781057
NM_001354689.3(RAF1):c.505G>C (p.Gly169Arg) rs886039607
NM_001354689.3(RAF1):c.507C>G (p.Gly169=) rs1309333776
NM_001354689.3(RAF1):c.513A>G (p.Lys171=) rs561163045
NM_001354689.3(RAF1):c.524A>G (p.His175Arg) rs397516822
NM_001354689.3(RAF1):c.537A>G (p.Lys179=)
NM_001354689.3(RAF1):c.570C>T (p.Ile190=) rs780912024
NM_001354689.3(RAF1):c.576A>G (p.Gln192=) rs148759910
NM_001354689.3(RAF1):c.581+4A>G rs201776526
NM_001354689.3(RAF1):c.589C>G (p.Pro197Ala)
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.606T>G (p.Gly202=) rs754197477
NM_001354689.3(RAF1):c.60C>T (p.Ala20=) rs755869970
NM_001354689.3(RAF1):c.622G>C (p.Ala208Pro)
NM_001354689.3(RAF1):c.639T>C (p.Thr213=) rs397516823
NM_001354689.3(RAF1):c.647G>A (p.Arg216His) rs761703202
NM_001354689.3(RAF1):c.654A>G (p.Arg218=)
NM_001354689.3(RAF1):c.659_660del (p.Ser220fs)
NM_001354689.3(RAF1):c.66T>G (p.Phe22Leu) rs397516824
NM_001354689.3(RAF1):c.672G>T (p.Met224Ile) rs1553614191
NM_001354689.3(RAF1):c.680+6T>C rs371846795
NM_001354689.3(RAF1):c.681-5_681-3del rs1553613814
NM_001354689.3(RAF1):c.683C>G (p.Ser228Cys) rs766437069
NM_001354689.3(RAF1):c.72C>T (p.Gly24=)
NM_001354689.3(RAF1):c.746G>T (p.Gly249Val) rs1559426289
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>G (p.Ser257Trp) rs80338796
NM_001354689.3(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_001354689.3(RAF1):c.773C>G (p.Thr258Arg)
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>A (p.Ser259Tyr) rs397516827
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.779C>A (p.Thr260Lys)
NM_001354689.3(RAF1):c.779C>T (p.Thr260Ile) rs869025501
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.784A>C (p.Asn262His)
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.791A>T (p.His264Leu) rs1057517887
NM_001354689.3(RAF1):c.811C>A (p.Pro271Thr)
NM_001354689.3(RAF1):c.895-9C>G rs200112870
NM_001354689.3(RAF1):c.895G>A (p.Asp299Asn) rs368796800
NM_001354689.3(RAF1):c.903T>A (p.Ile301=)
NM_001354689.3(RAF1):c.908G>A (p.Ser303Asn)
NM_001354689.3(RAF1):c.913A>G (p.Ser305Gly) rs150054973
NM_001354689.3(RAF1):c.915C>T (p.Ser305=) rs763657486
NM_001354689.3(RAF1):c.916G>A (p.Glu306Lys) rs147453956
NM_001354689.3(RAF1):c.94A>G (p.Ile32Val) rs372738063
NM_001354689.3(RAF1):c.952A>C (p.Asn318His) rs878854567
NM_001354689.3(RAF1):c.967A>G (p.Thr323Ala) rs775898894
NM_001354689.3(RAF1):c.969A>C (p.Thr323=) rs5746219
NM_001354689.3(RAF1):c.977C>T (p.Ser326Leu) rs886041231
NM_001354689.3(RAF1):c.97G>A (p.Val33Ile)
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_001354689.3(RAF1):c.995T>C (p.Val332Ala) rs370243307
NM_002880.3(RAF1):c.-26-?_1370+?dup
NM_002880.3(RAF1):c.-339_-338AG[1] rs527774250
NM_002880.3(RAF1):c.-415-1C>G rs61730434

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