ClinVar Miner

List of variants in gene BRAF reported as pathogenic for Cardiofaciocutaneous syndrome 1

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Total variants: 14
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HGVS dbSNP
NM_004333.4(BRAF):c.1501G>A (p.Glu501Lys) rs180177038
NM_004333.4(BRAF):c.1914T>G (p.Asp638Glu) rs180177042
NM_004333.4(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_004333.4(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_004333.5(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004333.5(BRAF):c.1455G>C (p.Leu485Phe) rs180177036
NM_004333.5(BRAF):c.1495A>G (p.Lys499Glu) rs180177037
NM_004333.5(BRAF):c.1502A>G (p.Glu501Gly) rs180177039
NM_004333.5(BRAF):c.1600G>C (p.Gly534Arg) rs180177041
NM_004333.5(BRAF):c.1722C>G (p.His574Gln) rs397507481
NM_004333.5(BRAF):c.1741A>G (p.Asn581Asp) rs180177040
NM_004333.5(BRAF):c.1783T>C (p.Phe595Leu) rs794729219
NM_004333.5(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_004333.5(BRAF):c.736G>C (p.Ala246Pro) rs180177034

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