List of variants studied for Cardio-facio-cutaneous syndrome by GenomeConnect - CFC International

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_002755.4(MAP2K1):c.374A>G (p.Tyr125Cys)	rs1595861880
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu)	rs121913355
NM_004333.6(BRAF):c.1447A>C (p.Lys483Gln)	rs397507474
NM_004333.6(BRAF):c.1741A>G (p.Asn581Asp)	rs180177040
NM_004333.6(BRAF):c.1802A>T (p.Lys601Ile)	rs397507484
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg)	rs180177035
NM_030662.4(MAP2K2):c.170T>G (p.Phe57Cys)	rs121434497

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