ClinVar Miner

List of variants studied for Cardiofaciocutaneous syndrome 1; LEOPARD syndrome 3; Noonan syndrome 7; Melanoma, cutaneous malignant, susceptibility to, 1; Colorectal cancer; Lung cancer by Fulgent Genetics, Fulgent Genetics

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_004333.6(BRAF):c.1433-5T>C rs587780861 0.00006
NM_004333.6(BRAF):c.52C>G (p.Leu18Val) rs1222192591 0.00006
NM_004333.6(BRAF):c.1024A>G (p.Ile342Val) rs201481342 0.00005
NM_004333.6(BRAF):c.995C>T (p.Thr332Ile) rs1008080053 0.00004
NM_004333.6(BRAF):c.113C>T (p.Ala38Val) rs886042293 0.00001
NM_004333.6(BRAF):c.1237G>A (p.Val413Met) rs377093637 0.00001
NM_004333.6(BRAF):c.1690A>G (p.Met564Val) rs745783052 0.00001
NM_004333.6(BRAF):c.1797A>G (p.Thr599=) rs1431556127 0.00001
NM_004333.6(BRAF):c.1133A>G (p.Asn378Ser) rs1278451495
NM_004333.6(BRAF):c.1178-3T>C
NM_004333.6(BRAF):c.1204C>T (p.Pro402Ser)
NM_004333.6(BRAF):c.1207C>G (p.Pro403Ala) rs749792302
NM_004333.6(BRAF):c.1314+14A>G
NM_004333.6(BRAF):c.1331G>A (p.Arg444Gln) rs1800890866
NM_004333.6(BRAF):c.1346A>G (p.Asp449Gly)
NM_004333.6(BRAF):c.1365G>T (p.Gly455=)
NM_004333.6(BRAF):c.1368G>A (p.Gln456=) rs767473452
NM_004333.6(BRAF):c.1433-11T>A
NM_004333.6(BRAF):c.1558T>G (p.Ser520Ala)
NM_004333.6(BRAF):c.1627A>G (p.Ile543Val)
NM_004333.6(BRAF):c.1789C>T (p.Leu597=) rs121913369
NM_004333.6(BRAF):c.2035A>T (p.Ser679Cys)
NM_004333.6(BRAF):c.2039A>G (p.Lys680Arg)
NM_004333.6(BRAF):c.2046G>A (p.Arg682=)
NM_004333.6(BRAF):c.206G>C (p.Gly69Ala) rs1554412417
NM_004333.6(BRAF):c.208G>A (p.Gly70Arg)
NM_004333.6(BRAF):c.2127+4A>G
NM_004333.6(BRAF):c.2182G>A (p.Ala728Thr)
NM_004333.6(BRAF):c.2231G>C (p.Ser744Thr)
NM_004333.6(BRAF):c.22G>T (p.Gly8Cys)
NM_004333.6(BRAF):c.260G>A (p.Ser87Asn) rs1033856250
NM_004333.6(BRAF):c.282A>G (p.Gln94=)
NM_004333.6(BRAF):c.366TTC[1] (p.Ser127del)
NM_004333.6(BRAF):c.416A>C (p.Gln139Pro)
NM_004333.6(BRAF):c.45C>T (p.Gly15=)
NM_004333.6(BRAF):c.505-20A>G
NM_004333.6(BRAF):c.517T>C (p.Cys173Arg) rs749677118
NM_004333.6(BRAF):c.608+6G>T
NM_004333.6(BRAF):c.679T>A (p.Leu227Met)
NM_004333.6(BRAF):c.957C>A (p.Ser319=)
NM_004333.6(BRAF):c.958G>A (p.Ala320Thr) rs1461617552
NM_004333.6(BRAF):c.980G>A (p.Gly327Glu)

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