ClinVar Miner

List of variants in gene MAP2K2 reported as likely pathogenic for RASopathy

Included ClinVar conditions (63):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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NM_030662.3(MAP2K2):c.181A>G (p.Lys61Glu) rs730880517
NM_030662.3(MAP2K2):c.191T>G (p.Val64Gly) rs1135401787
NM_030662.3(MAP2K2):c.376A>G (p.Asn126Asp) rs1057519806
NM_030662.4(MAP2K2):c.187_192del (p.Lys63_Val64del) rs1599307313
NM_030662.4(MAP2K2):c.335G>T (p.Arg112Leu)
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.619G>A (p.Glu207Lys) rs727504382

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