ClinVar Miner

List of variants in gene BRAF reported as pathogenic by Database of Curated Mutations (DoCM)

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_004333.6(BRAF):c.1397G>T (p.Gly466Val) rs121913351
NM_004333.6(BRAF):c.1405_1406delinsTT (p.Gly469Leu) rs1057519720
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004333.6(BRAF):c.1406G>C (p.Gly469Ala) rs121913355
NM_004333.6(BRAF):c.1406G>T (p.Gly469Val) rs121913355
NM_004333.6(BRAF):c.1415A>G (p.Tyr472Cys) rs1057519719
NM_004333.6(BRAF):c.1779_1780delinsGA (p.Asp594Asn) rs1057519718
NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn) rs397516896
NM_004333.6(BRAF):c.1780G>C (p.Asp594His) rs397516896
NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly) rs121913338
NM_004333.6(BRAF):c.1781A>T (p.Asp594Val) rs121913338
NM_004333.6(BRAF):c.1782T>A (p.Asp594Glu) rs121913337
NM_004333.6(BRAF):c.1782T>G (p.Asp594Glu) rs121913337
NM_004333.6(BRAF):c.1786G>C (p.Gly596Arg) rs121913361
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val) rs121913369
NM_004333.6(BRAF):c.1789_1790delinsTC (p.Leu597Ser) rs121913368
NM_004333.6(BRAF):c.1790T>A (p.Leu597Gln) rs121913366
NM_004333.6(BRAF):c.1790T>G (p.Leu597Arg) rs121913366
NM_004333.6(BRAF):c.1798G>A (p.Val600Met) rs121913378
NM_004333.6(BRAF):c.1798_1799delinsAA (p.Val600Lys) rs121913227
NM_004333.6(BRAF):c.1798_1799delinsAG (p.Val600Arg) rs121913227
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004333.6(BRAF):c.1799T>G (p.Val600Gly) rs113488022
NM_004333.6(BRAF):c.1799_1800delinsAT (p.Val600Asp) rs121913377

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