ClinVar Miner

List of variants in gene BRAF reported as uncertain significance for Noonan syndrome and Noonan-related syndrome

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_004333.6(BRAF):c.1992+8T>C rs753545284 0.00005
NM_004333.6(BRAF):c.622A>G (p.Ile208Val) rs727504571 0.00003
NM_004333.6(BRAF):c.1166G>A (p.Arg389His) rs577372072 0.00001
NM_004333.6(BRAF):c.1178-10A>G rs527835644 0.00001
NM_004333.6(BRAF):c.2127+7A>G rs371857758 0.00001
NM_004333.6(BRAF):c.63G>A (p.Gly21=) rs1158725219 0.00001
NM_004333.6(BRAF):c.1177G>A (p.Gly393Arg) rs748393685
NM_004333.6(BRAF):c.1189G>T (p.Gly397Cys) rs760702929
NM_004333.6(BRAF):c.1205C>A (p.Pro402His) rs199927105
NM_004333.6(BRAF):c.1218A>C (p.Leu406Phe) rs1801035219
NM_004333.6(BRAF):c.1742-10T>G rs730880411
NM_004333.6(BRAF):c.1786G>T (p.Gly596Cys) rs121913361
NM_004333.6(BRAF):c.755G>C (p.Arg252Pro) rs1325951163
NM_004333.6(BRAF):c.980+10G>A rs771029578
NM_004333.6(BRAF):c.98C>T (p.Ala33Val) rs2129153230

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