ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 52
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp) rs371877084 0.01088
NM_004333.6(BRAF):c.1383A>G (p.Gln461=) rs56216404 0.00399
NM_004333.6(BRAF):c.1227A>G (p.Ser409=) rs145035762 0.00318
NM_004333.6(BRAF):c.1332G>A (p.Arg444=) rs56101602 0.00068
NM_004333.6(BRAF):c.2235A>G (p.Leu745=) rs56046546 0.00030
NM_004333.6(BRAF):c.64G>A (p.Asp22Asn) rs397507456 0.00025
NM_004333.6(BRAF):c.-5A>G rs71645936 0.00024
NM_004333.6(BRAF):c.968C>T (p.Ser323Leu) rs397516907 0.00012
NM_004333.6(BRAF):c.36G>A (p.Ala12=) rs397507454 0.00011
NM_004333.6(BRAF):c.375T>G (p.Ser125=) rs201507202 0.00008
NM_004333.6(BRAF):c.92C>G (p.Ala31Gly) rs397516906 0.00006
NM_004333.6(BRAF):c.1992+8T>C rs753545284 0.00005
NM_004333.6(BRAF):c.1150A>G (p.Arg384Gly) rs545495379 0.00004
NM_004333.6(BRAF):c.2128-10_2128-9insC rs758588300 0.00003
NM_004333.6(BRAF):c.622A>G (p.Ile208Val) rs727504571 0.00003
NM_004333.6(BRAF):c.708C>T (p.Asn236=) rs138333692 0.00003
NM_004333.6(BRAF):c.1166G>A (p.Arg389His) rs577372072 0.00001
NM_004333.6(BRAF):c.1178-10A>G rs527835644 0.00001
NM_004333.6(BRAF):c.2127+7A>G rs371857758 0.00001
NM_004333.6(BRAF):c.63G>A (p.Gly21=) rs1158725219 0.00001
NM_004333.6(BRAF):c.957C>T (p.Ser319=) rs754029526 0.00001
NM_001374258.1(BRAF):c.1523T>C (p.Phe508Ser) rs397507473
NM_004333.6(BRAF):c.1177G>A (p.Gly393Arg) rs748393685
NM_004333.6(BRAF):c.1189G>T (p.Gly397Cys) rs760702929
NM_004333.6(BRAF):c.1203C>T (p.Thr401=) rs370130654
NM_004333.6(BRAF):c.1205C>A (p.Pro402His) rs199927105
NM_004333.6(BRAF):c.1218A>C (p.Leu406Phe) rs1801035219
NM_004333.6(BRAF):c.1391G>T (p.Gly464Val) rs121913348
NM_004333.6(BRAF):c.1405G>A (p.Gly469Arg) rs121913357
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser) rs397507475
NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu) rs180177037
NM_004333.6(BRAF):c.1695T>G (p.Asp565Glu) rs397507480
NM_004333.6(BRAF):c.1742-10T>G rs730880411
NM_004333.6(BRAF):c.1786G>T (p.Gly596Cys) rs121913361
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val) rs121913369
NM_004333.6(BRAF):c.2128-16_2128-7del rs766844227
NM_004333.6(BRAF):c.2128-4G>T rs956143558
NM_004333.6(BRAF):c.2128-5del rs373442098
NM_004333.6(BRAF):c.2128-5dup rs373442098
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe) rs397507466
NM_004333.6(BRAF):c.735A>T (p.Leu245Phe) rs397507466
NM_004333.6(BRAF):c.739T>C (p.Phe247Leu) rs397516903
NM_004333.6(BRAF):c.739T>G (p.Phe247Val) rs397516903
NM_004333.6(BRAF):c.740T>C (p.Phe247Ser) rs397507467
NM_004333.6(BRAF):c.741T>G (p.Phe247Leu) rs397509343
NM_004333.6(BRAF):c.755G>C (p.Arg252Pro) rs1325951163
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_004333.6(BRAF):c.83GCGCCG[4] (p.28GA[4]) rs397507458
NM_004333.6(BRAF):c.96CGC[4] (p.Ala34_Ala35dup) rs2129153215
NM_004333.6(BRAF):c.980+10G>A rs771029578
NM_004333.6(BRAF):c.98C>T (p.Ala33Val) rs2129153230

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.