ClinVar Miner

List of variants in gene BRAF 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: 187
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HGVS dbSNP
NC_000007.13:g.(?_140434377)_(140534692_?)dup
NC_000007.13:g.(?_140434387)_(140534682_?)dup
NC_000007.14:g.(?_140734587)_(140924713_?)dup
NM_001374258.1(BRAF):c.-12C>T
NM_001374258.1(BRAF):c.-19C>T rs71645935
NM_001374258.1(BRAF):c.-56C>T
NM_001374258.1(BRAF):c.1056T>A (p.Asp352Glu)
NM_001374258.1(BRAF):c.1066C>G (p.Gln356Glu)
NM_001374258.1(BRAF):c.1068A>G (p.Gln356=) rs143335467
NM_001374258.1(BRAF):c.1300T>C (p.Ser434Pro)
NM_001374258.1(BRAF):c.1347A>G (p.Ser449=) rs145035762
NM_001374258.1(BRAF):c.1452G>A (p.Arg484=) rs56101602
NM_001374258.1(BRAF):c.1503A>G (p.Gln501=) rs56216404
NM_001374258.1(BRAF):c.1511G>A (p.Gly504Glu) rs121913348
NM_001374258.1(BRAF):c.1523T>C (p.Phe508Ser) rs397507473
NM_001374258.1(BRAF):c.1526G>A (p.Gly509Glu) rs121913355
NM_001374258.1(BRAF):c.1526_1531del (p.Gly509_Thr510del)
NM_001374258.1(BRAF):c.1528A>C (p.Thr510Pro)
NM_001374258.1(BRAF):c.1562C>A (p.Ala521Glu) rs397516892
NM_001374258.1(BRAF):c.1567A>C (p.Lys523Gln) rs397507474
NM_001374258.1(BRAF):c.1568A>C (p.Lys523Thr)
NM_001374258.1(BRAF):c.1569A>C (p.Lys523Asn) rs727504375
NM_001374258.1(BRAF):c.1574T>C (p.Leu525Ser) rs397507475
NM_001374258.1(BRAF):c.1575G>C (p.Leu525Phe) rs180177036
NM_001374258.1(BRAF):c.1575G>T (p.Leu525Phe) rs180177036
NM_001374258.1(BRAF):c.1580T>G (p.Val527Gly) rs397516893
NM_001374258.1(BRAF):c.1621G>A (p.Glu541Lys) rs180177038
NM_001374258.1(BRAF):c.1621G>C (p.Glu541Gln) rs180177038
NM_001374258.1(BRAF):c.1622A>G (p.Glu541Gly) rs180177039
NM_001374258.1(BRAF):c.1622A>T (p.Glu541Val) rs180177039
NM_001374258.1(BRAF):c.1689A>G (p.Pro563=)
NM_001374258.1(BRAF):c.1715G>A (p.Cys572Tyr) rs397507479
NM_001374258.1(BRAF):c.1720G>C (p.Gly574Arg) rs180177041
NM_001374258.1(BRAF):c.1814+14G>A rs184144181
NM_001374258.1(BRAF):c.1815T>G (p.Asp605Glu) rs397507480
NM_001374258.1(BRAF):c.1840C>T (p.His614Tyr) rs397516894
NM_001374258.1(BRAF):c.1861A>G (p.Asn621Asp) rs180177040
NM_001374258.1(BRAF):c.1863T>A (p.Asn621Lys) rs397516895
NM_001374258.1(BRAF):c.1903T>C (p.Phe635Leu) rs794729219
NM_001374258.1(BRAF):c.1905T>G (p.Phe635Leu) rs121913341
NM_001374258.1(BRAF):c.1907G>T (p.Gly636Val) rs397507483
NM_001374258.1(BRAF):c.1909C>G (p.Leu637Val) rs121913369
NM_001374258.1(BRAF):c.1919T>A (p.Val640Glu) rs113488022
NM_001374258.1(BRAF):c.1921A>C (p.Lys641Gln) rs121913364
NM_001374258.1(BRAF):c.1922A>C (p.Lys641Thr) rs397507484
NM_001374258.1(BRAF):c.2034T>G (p.Asp678Glu) rs180177042
NM_001374258.1(BRAF):c.2049A>G (p.Gly683=) rs9648696
NM_001374258.1(BRAF):c.2063A>G (p.Glu688Gly)
NM_001374258.1(BRAF):c.2247+3A>G rs371976102
NM_001374258.1(BRAF):c.2255C>A (p.Ala752Asp) rs727502904
NM_001374258.1(BRAF):c.2355A>G (p.Leu785=) rs56046546
NM_001374258.1(BRAF):c.2401+144G>C
NM_001374258.1(BRAF):c.2401+163A>G
NM_001374258.1(BRAF):c.2401+223A>G
NM_001374258.1(BRAF):c.2401+236T>C
NM_001374258.1(BRAF):c.2401+27T>C rs727502903
NM_001374258.1(BRAF):c.316G>A (p.Gly106Arg) rs749247588
NM_001374258.1(BRAF):c.375T>G (p.Ser125=) rs201507202
NM_001374258.1(BRAF):c.469G>A (p.Val157Ile) rs1258111302
NM_001374258.1(BRAF):c.563G>C (p.Arg188Thr)
NM_001374258.1(BRAF):c.64G>A (p.Asp22Asn) rs397507456
NM_001374258.1(BRAF):c.708C>T (p.Asn236=) rs138333692
NM_001374258.1(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_001374258.1(BRAF):c.730A>C (p.Thr244Pro) rs397507465
NM_001374258.1(BRAF):c.735A>C (p.Leu245Phe) rs397507466
NM_001374258.1(BRAF):c.735A>T (p.Leu245Phe) rs397507466
NM_001374258.1(BRAF):c.736G>C (p.Ala246Pro) rs180177034
NM_001374258.1(BRAF):c.739T>G (p.Phe247Val) rs397516903
NM_001374258.1(BRAF):c.769C>A (p.Gln257Lys) rs397507469
NM_001374258.1(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_001374258.1(BRAF):c.785A>C (p.Gln262Pro) rs397516904
NM_001374258.1(BRAF):c.78G>T (p.Glu26Asp) rs371877084
NM_001374258.1(BRAF):c.92C>G (p.Ala31Gly) rs397516906
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.-18C>G rs397507453
NM_004333.6(BRAF):c.-5A>G rs71645936
NM_004333.6(BRAF):c.101C>T (p.Ala34Val)
NM_004333.6(BRAF):c.1022C>A (p.Pro341Gln) rs863224722
NM_004333.6(BRAF):c.1023A>G (p.Pro341=) rs56092510
NM_004333.6(BRAF):c.1024A>G (p.Ile342Val) rs201481342
NM_004333.6(BRAF):c.1058A>G (p.His353Arg)
NM_004333.6(BRAF):c.1096G>C (p.Ala366Pro)
NM_004333.6(BRAF):c.111G>A (p.Ser37=) rs727502906
NM_004333.6(BRAF):c.1150A>G (p.Arg384Gly) rs545495379
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) rs199927105
NM_004333.6(BRAF):c.1206C>A (p.Pro402=)
NM_004333.6(BRAF):c.1237G>A (p.Val413Met) rs377093637
NM_004333.6(BRAF):c.1310G>A (p.Arg437Gln)
NM_004333.6(BRAF):c.138+3G>A rs1554430994
NM_004333.6(BRAF):c.1382A>G (p.Gln461Arg) rs1554399925
NM_004333.6(BRAF):c.1387A>G (p.Ile463Val) rs1562957000
NM_004333.6(BRAF):c.1388_1408dup (p.Ile463_Gly469dup) rs1562956929
NM_004333.6(BRAF):c.1390G>A (p.Gly464Arg) rs121913349
NM_004333.6(BRAF):c.1391G>C (p.Gly464Ala)
NM_004333.6(BRAF):c.1391G>T (p.Gly464Val) rs121913348
NM_004333.6(BRAF):c.1399T>G (p.Ser467Ala) rs869025606
NM_004333.6(BRAF):c.1408_1410del (p.Thr470del) rs869025607
NM_004333.6(BRAF):c.1409C>G (p.Thr470Arg) rs397516891
NM_004333.6(BRAF):c.1411G>T (p.Val471Phe) rs121913376
NM_004333.6(BRAF):c.1433-19A>G rs369635503
NM_004333.6(BRAF):c.1433-5T>C rs587780861
NM_004333.6(BRAF):c.1495A>C (p.Lys499Gln)
NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu) rs180177037
NM_004333.6(BRAF):c.1497A>T (p.Lys499Asn)
NM_004333.6(BRAF):c.1502A>C (p.Glu501Ala) rs180177039
NM_004333.6(BRAF):c.1505_1507dup (p.Val502dup) rs1562955153
NM_004333.6(BRAF):c.1513C>T (p.Leu505Phe) rs397507477
NM_004333.6(BRAF):c.1592G>C (p.Trp531Ser)
NM_004333.6(BRAF):c.1592G>T (p.Trp531Leu) rs397507478
NM_004333.6(BRAF):c.1593G>C (p.Trp531Cys) rs606231228
NM_004333.6(BRAF):c.1621C>T (p.Leu541Phe)
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.1667T>C (p.Ile556Thr)
NM_004333.6(BRAF):c.1722C>G (p.His574Gln) rs397507481
NM_004333.6(BRAF):c.1750C>T (p.Leu584Phe)
NM_004333.6(BRAF):c.1781A>T (p.Asp594Val) rs121913338
NM_004333.6(BRAF):c.1782T>G (p.Asp594Glu) rs121913337
NM_004333.6(BRAF):c.1796C>G (p.Thr599Arg) rs121913375
NM_004333.6(BRAF):c.1796C>T (p.Thr599Ile) rs121913375
NM_004333.6(BRAF):c.1798G>C (p.Val600Leu) rs121913378
NM_004333.6(BRAF):c.1799T>G (p.Val600Gly) rs113488022
NM_004333.6(BRAF):c.1802A>T (p.Lys601Ile) rs397507484
NM_004333.6(BRAF):c.181A>G (p.Ile61Val)
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_004333.6(BRAF):c.1940A>G (p.Tyr647Cys) rs1562939198
NM_004333.6(BRAF):c.1992+16G>C rs3789806
NM_004333.6(BRAF):c.2015G>T (p.Gly672Val) rs1428696172
NM_004333.6(BRAF):c.2019C>T (p.Tyr673=) rs759664527
NM_004333.6(BRAF):c.2125C>A (p.Gln709Lys) rs1554389828
NM_004333.6(BRAF):c.2127+7A>G rs371857758
NM_004333.6(BRAF):c.2128-15_2128-14dup rs373442098
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.2128-4G>T rs956143558
NM_004333.6(BRAF):c.2128-4del rs886062014
NM_004333.6(BRAF):c.2128-5del rs373442098
NM_004333.6(BRAF):c.2134G>A (p.Ala712Thr)
NM_004333.6(BRAF):c.2142T>C (p.Ile714=) rs1554388024
NM_004333.6(BRAF):c.2196C>G (p.Ser732=) rs142592480
NM_004333.6(BRAF):c.2276G>A (p.Gly759Glu)
NM_004333.6(BRAF):c.2279A>G (p.Tyr760Cys) rs1305119093
NM_004333.6(BRAF):c.247G>A (p.Glu83Lys)
NM_004333.6(BRAF):c.279A>G (p.Gln93=) rs150050723
NM_004333.6(BRAF):c.358G>A (p.Val120Ile) rs766748977
NM_004333.6(BRAF):c.36G>A (p.Ala12=) rs397507454
NM_004333.6(BRAF):c.399A>G (p.Ser133=) rs397507463
NM_004333.6(BRAF):c.39G>C (p.Glu13Asp) rs868441785
NM_004333.6(BRAF):c.41C>G (p.Pro14Arg) rs397507455
NM_004333.6(BRAF):c.436C>T (p.Arg146Trp)
NM_004333.6(BRAF):c.437G>A (p.Arg146Gln) rs557241012
NM_004333.6(BRAF):c.483G>C (p.Leu161=) rs61730029
NM_004333.6(BRAF):c.533G>A (p.Arg178Gln) rs746348396
NM_004333.6(BRAF):c.644C>T (p.Ser215Phe)
NM_004333.6(BRAF):c.68T>A (p.Met23Lys) rs746778122
NM_004333.6(BRAF):c.707A>C (p.Asn236Thr)
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.723G>A (p.Thr241=) rs369182143
NM_004333.6(BRAF):c.72G>C (p.Glu24Asp) rs587778114
NM_004333.6(BRAF):c.739T>C (p.Phe247Leu) rs397516903
NM_004333.6(BRAF):c.740T>C (p.Phe247Ser)
NM_004333.6(BRAF):c.741T>G (p.Phe247Leu) rs397509343
NM_004333.6(BRAF):c.753T>C (p.Cys251=) rs397507468
NM_004333.6(BRAF):c.779G>A (p.Arg260His)
NM_004333.6(BRAF):c.785A>G (p.Gln262Arg) rs397516904
NM_004333.6(BRAF):c.793G>C (p.Gly265Arg) rs397516905
NM_004333.6(BRAF):c.825A>T (p.Glu275Asp)
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.89G>A (p.Gly30Asp)
NM_004333.6(BRAF):c.918C>G (p.Ser306=) rs794727865
NM_004333.6(BRAF):c.958G>A (p.Ala320Thr)
NM_004333.6(BRAF):c.968C>T (p.Ser323Leu) rs397516907
NM_004333.6(BRAF):c.976A>G (p.Ile326Val) rs775040765
NM_004333.6(BRAF):c.981-14C>A rs200002171

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