List of variants in gene MAP2K2 reported as likely pathogenic for Noonan syndrome and Noonan-related syndrome

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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: 13

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HGVS	dbSNP	gnomAD frequency
NM_030662.4(MAP2K2):c.528G>A (p.Ala176=)	rs767939999	0.00002
NM_030662.4(MAP2K2):c.167C>A (p.Ala56Asp)
NM_030662.4(MAP2K2):c.181A>G (p.Lys61Glu)	rs730880517
NM_030662.4(MAP2K2):c.187_192del (p.Lys63_Val64del)	rs1599307313
NM_030662.4(MAP2K2):c.191T>G (p.Val64Gly)	rs1135401787
NM_030662.4(MAP2K2):c.335G>T (p.Arg112Leu)	rs2041142587
NM_030662.4(MAP2K2):c.376A>G (p.Asn126Asp)	rs1057519806
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
NM_030662.4(MAP2K2):c.404G>T (p.Gly135Val)
NM_030662.4(MAP2K2):c.619G>A (p.Glu207Lys)	rs727504382
NM_030662.4(MAP2K2):c.692G>T (p.Arg231Leu)	rs730880511

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