ClinVar Miner

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

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_004333.6(BRAF):c.977T>C (p.Ile326Thr) rs368435578 0.00003
NM_001374258.1(BRAF):c.1529C>G (p.Thr510Arg) rs397516891
NM_004333.6(BRAF):c.1205C>A (p.Pro402His) rs199927105
NM_004333.6(BRAF):c.1205C>G (p.Pro402Arg) rs199927105
NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe) rs180177036
NM_004333.6(BRAF):c.1502A>C (p.Glu501Ala) rs180177039
NM_004333.6(BRAF):c.1699T>G (p.Leu567Val)
NM_004333.6(BRAF):c.1740T>C (p.Asn580=)
NM_004333.6(BRAF):c.1796C>T (p.Thr599Ile) rs121913375
NM_004333.6(BRAF):c.2128-16_2128-15del rs886062015
NM_004333.6(BRAF):c.2128-27_2128-16delinsTCT rs886062016
NM_004333.6(BRAF):c.2128-28dup rs60814637
NM_004333.6(BRAF):c.2128-4del rs886062014
NM_004333.6(BRAF):c.2128-5dup rs373442098
NM_004333.6(BRAF):c.2161T>G (p.Leu721Val)
NM_004333.6(BRAF):c.793G>C (p.Gly265Arg) rs397516905

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