ClinVar Miner

List of variants in gene MAP2K1 reported as benign for RASopathy

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_002755.3(MAP2K1):c.1023-8C>T rs41306345
NM_002755.3(MAP2K1):c.315C>T (p.Pro105=) rs144166521
NM_002755.3(MAP2K1):c.438+8A>T rs550240942
NM_002755.3(MAP2K1):c.648C>T (p.Ile216=) rs148968935
NM_002755.3(MAP2K1):c.694-12TC[4] rs113913469
NM_002755.3(MAP2K1):c.711G>A (p.Gly237=) rs17586159
NM_002755.3(MAP2K1):c.804C>G (p.Ala268=) rs371652992
NM_002755.3(MAP2K1):c.848C>T (p.Ala283Val) rs144080051
NM_002755.3(MAP2K1):c.927A>T (p.Ala309=) rs146869577

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