ClinVar Miner

List of variants in gene MAP2K2 studied for Cardio-facio-cutaneous syndrome

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Total variants: 9
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HGVS dbSNP
NM_030662.3(MAP2K2):c.169T>G (p.Phe57Val) rs121434498
NM_030662.3(MAP2K2):c.170T>G (p.Phe57Cys) rs121434497
NM_030662.3(MAP2K2):c.187_192del
NM_030662.3(MAP2K2):c.376A>G (p.Asn126Asp) rs1057519806
NM_030662.3(MAP2K2):c.383C>A (p.Pro128Gln) rs267607230
NM_030662.3(MAP2K2):c.400T>C (p.Tyr134His) rs121434499
NM_030662.3(MAP2K2):c.401A>G (p.Tyr134Cys) rs727504370
NM_030662.3(MAP2K2):c.619G>A (p.Glu207Lys) rs727504382
NM_030662.3(MAP2K2):c.811G>A

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