ClinVar Miner

List of variants in gene BRAF reported as uncertain significance for RASopathy

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 48
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HGVS dbSNP
NC_000007.13:g.(?_140434377)_(140534692_?)dup
NC_000007.13:g.(?_140434387)_(140534682_?)dup
NC_000007.14:g.140778013T>G
NM_004333.4(BRAF):c.2128-16_2128-15delCT rs886062015
NM_004333.5(BRAF):c.2128-28dup rs60814637
NM_004333.6(BRAF):c.*3C>T rs746680490
NM_004333.6(BRAF):c.*7T>C rs727502903
NM_004333.6(BRAF):c.1022C>A (p.Pro341Gln) rs863224722
NM_004333.6(BRAF):c.1024A>G (p.Ile342Val) rs201481342
NM_004333.6(BRAF):c.1157A>G (p.Gln386Arg) rs1554401118
NM_004333.6(BRAF):c.1166G>A (p.Arg389His) rs577372072
NM_004333.6(BRAF):c.1190G>A (p.Gly397Asp) rs1554400237
NM_004333.6(BRAF):c.1196C>T (p.Ser399Phe) rs1554400234
NM_004333.6(BRAF):c.1205C>G (p.Pro402Arg)
NM_004333.6(BRAF):c.1237G>A (p.Val413Met) rs377093637
NM_004333.6(BRAF):c.138+3G>A rs1554430994
NM_004333.6(BRAF):c.1382A>G (p.Gln461Arg) rs1554399925
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu) rs121913348
NM_004333.6(BRAF):c.1411G>T (p.Val471Phe) rs121913376
NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe) rs180177036
NM_004333.6(BRAF):c.1595G>A (p.Cys532Tyr) rs397507479
NM_004333.6(BRAF):c.1643T>C (p.Phe548Ser) rs1562954580
NM_004333.6(BRAF):c.1661T>C (p.Ile554Thr) rs878854675
NM_004333.6(BRAF):c.1781A>T (p.Asp594Val) rs121913338
NM_004333.6(BRAF):c.1796C>T (p.Thr599Ile) rs121913375
NM_004333.6(BRAF):c.1799T>G (p.Val600Gly) rs113488022
NM_004333.6(BRAF):c.1940A>G (p.Tyr647Cys) rs1562939198
NM_004333.6(BRAF):c.2015G>T (p.Gly672Val) rs1428696172
NM_004333.6(BRAF):c.2125C>A (p.Gln709Lys) rs1554389828
NM_004333.6(BRAF):c.2128-15dup rs373442098
NM_004333.6(BRAF):c.2128-27_2128-16delinsTCT rs886062016
NM_004333.6(BRAF):c.2128-4del rs886062014
NM_004333.6(BRAF):c.2279A>G (p.Tyr760Cys) rs1305119093
NM_004333.6(BRAF):c.316G>A (p.Gly106Arg) rs749247588
NM_004333.6(BRAF):c.358G>A (p.Val120Ile) rs766748977
NM_004333.6(BRAF):c.39G>C (p.Glu13Asp)
NM_004333.6(BRAF):c.41C>G (p.Pro14Arg) rs397507455
NM_004333.6(BRAF):c.437G>A (p.Arg146Gln) rs557241012
NM_004333.6(BRAF):c.533G>A (p.Arg178Gln) rs746348396
NM_004333.6(BRAF):c.68T>A (p.Met23Lys)
NM_004333.6(BRAF):c.722C>A (p.Thr241Lys) rs387906660
NM_004333.6(BRAF):c.793G>C (p.Gly265Arg) rs397516905
NM_004333.6(BRAF):c.83_88GCGCCG[1] (p.28_29GA[1]) rs397507458
NM_004333.6(BRAF):c.83_88GCGCCG[2] (p.28_29GA[2]) rs397507458
NM_004333.6(BRAF):c.83_88GCGCCG[4] (p.28_29GA[4]) rs397507458
NM_004333.6(BRAF):c.83_88GCGCCG[5] (p.28_29GA[5]) rs397507458
NM_004333.6(BRAF):c.92C>G (p.Ala31Gly) rs397516906
NM_004333.6(BRAF):c.981-14C>A rs200002171

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