ClinVar Miner

List of variants in gene MAP2K1 reported as pathogenic for RASopathy

Included ClinVar conditions (55):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_002755.3(MAP2K1):c.158T>C (p.Phe53Ser) rs121908594
NM_002755.3(MAP2K1):c.171G>T (p.Lys57Asn) rs869025608
NM_002755.3(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_002755.3(MAP2K1):c.305A>G (p.Glu102Gly) rs797044593
NM_002755.3(MAP2K1):c.371C>T (p.Pro124Leu) rs397516792
NM_002755.3(MAP2K1):c.383G>T (p.Gly128Val) rs121908596
NM_002755.3(MAP2K1):c.383_384delinsTT (p.Gly128Val) rs730880508
NM_002755.3(MAP2K1):c.388T>A (p.Tyr130Asn)
NM_002755.3(MAP2K1):c.388T>C (p.Tyr130His) rs397516793
NM_002755.3(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595

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