ClinVar Miner

List of variants in gene BRAF reported as likely pathogenic for Rasopathy

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Total variants: 11
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HGVS dbSNP
NM_004333.6(BRAF):c.1096G>C (p.Ala366Pro)
NM_004333.6(BRAF):c.1388_1408dup (p.Ile463_Gly469dup) rs1562956929
NM_004333.6(BRAF):c.1391G>T (p.Gly464Val) rs121913348
NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe) rs180177036
NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu) rs180177037
NM_004333.6(BRAF):c.1505_1507dup (p.Val502dup) rs1562955153
NM_004333.6(BRAF):c.1595G>A (p.Cys532Tyr) rs397507479
NM_004333.6(BRAF):c.1802A>T (p.Lys601Ile) rs397507484
NM_004333.6(BRAF):c.735A>T (p.Leu245Phe) rs397507466
NM_004333.6(BRAF):c.785A>G (p.Gln262Arg) rs397516904
NM_004333.6(BRAF):c.793G>C (p.Gly265Arg) rs397516905

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