List of variants in gene MAP2K2 reported as pathogenic for hereditary epidermal appendage anomaly

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_030662.4(MAP2K2):c.169T>C (p.Phe57Leu)	rs121434498
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.181A>G (p.Lys61Glu)	rs730880517
NM_030662.4(MAP2K2):c.183A>C (p.Lys61Asn)	rs886041310
NM_030662.4(MAP2K2):c.376A>G (p.Asn126Asp)	rs1057519806
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
NM_030662.4(MAP2K2):c.401A>G (p.Tyr134Cys)	rs727504370

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