ClinVar Miner

List of variants in gene BRAF studied for Noonan syndrome

Included ClinVar conditions (28):
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Gene type:
ClinVar version:
Total variants: 61
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HGVS dbSNP
NC_000007.14:g.140777014C>G
NC_000007.14:g.140924603G>A
NM_004333.6(BRAF):c.*111C>T rs539860876
NM_004333.6(BRAF):c.*387G>A rs114105685
NM_004333.6(BRAF):c.*3C>T rs746680490
NM_004333.6(BRAF):c.*7T>C rs727502903
NM_004333.6(BRAF):c.-19C>T rs71645935
NM_004333.6(BRAF):c.-5A>G rs71645936
NM_004333.6(BRAF):c.1024A>G (p.Ile342Val) rs201481342
NM_004333.6(BRAF):c.1068A>G (p.Gln356=) rs143335467
NM_004333.6(BRAF):c.1166G>A (p.Arg389His) rs577372072
NM_004333.6(BRAF):c.1205C>G (p.Pro402Arg)
NM_004333.6(BRAF):c.1227A>G (p.Ser409=) rs145035762
NM_004333.6(BRAF):c.1237G>A (p.Val413Met) rs377093637
NM_004333.6(BRAF):c.1332G>A (p.Arg444=) rs56101602
NM_004333.6(BRAF):c.1383A>G (p.Gln461=) rs56216404
NM_004333.6(BRAF):c.1387A>G (p.Ile463Val) rs1562957000
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu) rs121913348
NM_004333.6(BRAF):c.1409C>G (p.Thr470Arg) rs397516891
NM_004333.6(BRAF):c.1449A>C (p.Lys483Asn) rs727504375
NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe) rs180177036
NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe) rs180177036
NM_004333.6(BRAF):c.1501G>A (p.Glu501Lys) rs180177038
NM_004333.6(BRAF):c.1513C>T (p.Leu505Phe) rs397507477
NM_004333.6(BRAF):c.1593G>C (p.Trp531Cys) rs606231228
NM_004333.6(BRAF):c.1694+14G>A rs184144181
NM_004333.6(BRAF):c.1743T>A (p.Asn581Lys) rs397516895
NM_004333.6(BRAF):c.1787G>T (p.Gly596Val) rs397507483
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val) rs121913369
NM_004333.6(BRAF):c.1796C>T (p.Thr599Ile) rs121913375
NM_004333.6(BRAF):c.1801A>C (p.Lys601Gln) rs121913364
NM_004333.6(BRAF):c.1802A>C (p.Lys601Thr) rs397507484
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_004333.6(BRAF):c.1929A>G (p.Gly643=) rs9648696
NM_004333.6(BRAF):c.1940A>G (p.Tyr647Cys) rs1562939198
NM_004333.6(BRAF):c.2128-15dup rs373442098
NM_004333.6(BRAF):c.2128-16_2128-15del rs886062015
NM_004333.6(BRAF):c.2128-27_2128-16delinsTCT rs886062016
NM_004333.6(BRAF):c.2128-36dup rs60814637
NM_004333.6(BRAF):c.2128-4del rs886062014
NM_004333.6(BRAF):c.2128-5del rs373442098
NM_004333.6(BRAF):c.2135C>A (p.Ala712Asp) rs727502904
NM_004333.6(BRAF):c.2235A>G (p.Leu745=) rs56046546
NM_004333.6(BRAF):c.36G>A (p.Ala12=) rs397507454
NM_004333.6(BRAF):c.375T>G (p.Ser125=) rs201507202
NM_004333.6(BRAF):c.437G>A (p.Arg146Gln) rs557241012
NM_004333.6(BRAF):c.708C>T (p.Asn236=) rs138333692
NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_004333.6(BRAF):c.722C>A (p.Thr241Lys) rs387906660
NM_004333.6(BRAF):c.722C>G (p.Thr241Arg) rs387906660
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe) rs397507466
NM_004333.6(BRAF):c.736G>C (p.Ala246Pro) rs180177034
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.741T>G (p.Phe247Leu) rs397509343
NM_004333.6(BRAF):c.769C>A (p.Gln257Lys) rs397507469
NM_004333.6(BRAF):c.785A>C (p.Gln262Pro) rs397516904
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp) rs371877084
NM_004333.6(BRAF):c.793G>C (p.Gly265Arg) rs397516905
NM_004333.6(BRAF):c.981-14C>A rs200002171

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