List of variants reported as pathogenic for cardiofaciocutaneous syndrome 4 by OMIM

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_030662.4(MAP2K2):c.169T>G (p.Phe57Val)	rs121434498
NM_030662.4(MAP2K2):c.170T>G (p.Phe57Cys)	rs121434497
NM_030662.4(MAP2K2):c.383C>A (p.Pro128Gln)	rs267607230
NM_030662.4(MAP2K2):c.395G>A (p.Gly132Asp)	rs387906800
NM_030662.4(MAP2K2):c.400T>C (p.Tyr134His)	rs121434499

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