List of variants in gene BRAF reported as pathogenic for Noonan syndrome 7

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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: 16

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HGVS	dbSNP	gnomAD frequency
NM_004333.6(BRAF):c.722C>T (p.Thr241Met)	rs387906660	0.00001
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu)	rs121913355
NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu)	rs180177037
NM_004333.6(BRAF):c.1574T>C (p.Leu525Pro)	rs869025340
NM_004333.6(BRAF):c.1592G>C (p.Trp531Ser)	rs397507478
NM_004333.6(BRAF):c.1593G>C (p.Trp531Cys)	rs606231228
NM_004333.6(BRAF):c.1785T>G (p.Phe595Leu)	rs121913341
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.1914T>G (p.Asp638Glu)	rs180177042
NM_004333.6(BRAF):c.721A>C (p.Thr241Pro)	rs387906661
NM_004333.6(BRAF):c.722C>G (p.Thr241Arg)	rs387906660
NM_004333.6(BRAF):c.736G>C (p.Ala246Pro)	rs180177034
NM_004333.6(BRAF):c.739T>C (p.Phe247Leu)	rs397516903
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg)	rs180177035
NM_004333.6(BRAF):c.823G>A (p.Glu275Lys)	rs2129044284

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