List of variants in gene BRAF reported as pathogenic for Noonan syndrome; Cardio-facio-cutaneous syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe)	rs180177036
NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe)	rs180177036
NM_004333.6(BRAF):c.1501G>A (p.Glu501Lys)	rs180177038
NM_004333.6(BRAF):c.1787G>T (p.Gly596Val)	rs397507483
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val)	rs121913369
NM_004333.6(BRAF):c.1801A>C (p.Lys601Gln)	rs121913364
NM_004333.6(BRAF):c.1802A>C (p.Lys601Thr)	rs397507484
NM_004333.6(BRAF):c.736G>C (p.Ala246Pro)	rs180177034

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