ClinVar Miner

List of variants in gene BRAF studied for Noonan syndrome

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Total variants: 31
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HGVS dbSNP
NM_001374258.1(BRAF):c.101C>T (p.Ala34Val) rs1424449802
NM_001374258.1(BRAF):c.1325C>A (p.Pro442His) rs199927105
NM_001374258.1(BRAF):c.1325C>G (p.Pro442Arg) rs199927105
NM_001374258.1(BRAF):c.1529C>G (p.Thr510Arg) rs397516891
NM_001374258.1(BRAF):c.1575G>T (p.Leu525Phe) rs180177036
NM_001374258.1(BRAF):c.1622A>C (p.Glu541Ala) rs180177039
NM_001374258.1(BRAF):c.1633C>T (p.Leu545Phe) rs397507477
NM_001374258.1(BRAF):c.1819T>G (p.Leu607Val)
NM_001374258.1(BRAF):c.1860T>C (p.Asn620=)
NM_001374258.1(BRAF):c.1916C>T (p.Thr639Ile) rs121913375
NM_001374258.1(BRAF):c.2248-16_2248-15del rs886062015
NM_001374258.1(BRAF):c.2248-27_2248-16delinsTCT rs886062016
NM_001374258.1(BRAF):c.2248-28dup rs60814637
NM_001374258.1(BRAF):c.2248-4del rs886062014
NM_001374258.1(BRAF):c.2248-5del rs373442098
NM_001374258.1(BRAF):c.2248-5dup rs373442098
NM_001374258.1(BRAF):c.2255C>A (p.Ala752Asp) rs727502904
NM_001374258.1(BRAF):c.2281T>G (p.Leu761Val)
NM_001374258.1(BRAF):c.2311C>T (p.Pro771Ser) rs1562931107
NM_001374258.1(BRAF):c.722C>A (p.Thr241Lys) rs387906660
NM_001374258.1(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_001374258.1(BRAF):c.736G>C (p.Ala246Pro) rs180177034
NM_001374258.1(BRAF):c.739T>C (p.Phe247Leu) rs397516903
NM_001374258.1(BRAF):c.741T>G (p.Phe247Leu) rs397509343
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.793G>C (p.Gly265Arg) rs397516905
NM_001374258.1(BRAF):c.83GCGCCG[1] (p.28GA[1]) rs397507458
NM_001374258.1(BRAF):c.83GCGCCG[4] (p.28GA[4]) rs397507458
NM_001374258.1(BRAF):c.977T>C (p.Ile326Thr) rs368435578
NM_001374258.1(BRAF):c.995C>T (p.Thr332Ile) rs1008080053

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