List of variants reported as pathogenic for Cardiofaciocutaneous syndrome 1 by 3billion

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_004333.6(BRAF):c.1391G>T (p.Gly464Val)	rs121913348
NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu)	rs180177037
NM_004333.6(BRAF):c.1501G>A (p.Glu501Lys)	rs180177038
NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly)	rs180177039
NM_004333.6(BRAF):c.1502A>T (p.Glu501Val)	rs180177039
NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg)	rs180177041
NM_004333.6(BRAF):c.1741A>G (p.Asn581Asp)	rs180177040
NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu)	rs794729219
NM_004333.6(BRAF):c.1796C>G (p.Thr599Arg)	rs121913375
NM_004333.6(BRAF):c.1802A>T (p.Lys601Ile)	rs397507484
NM_004333.6(BRAF):c.1914T>G (p.Asp638Glu)	rs180177042
NM_004333.6(BRAF):c.736G>C (p.Ala246Pro)	rs180177034
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg)	rs180177035

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