ClinVar Miner

List of variants in gene MAPK1 studied for Noonan syndrome

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_002745.5(MAPK1):c.763A>G (p.Ile255Val) rs375334289 0.00002
NM_002745.5(MAPK1):c.155C>A (p.Ala52Asp) rs2145705712
NM_002745.5(MAPK1):c.221T>A (p.Ile74Asn) rs2069154121
NM_002745.5(MAPK1):c.521C>T (p.Ala174Val) rs2069052012
NM_002745.5(MAPK1):c.946T>C (p.Tyr316His)
NM_002745.5(MAPK1):c.952G>A (p.Asp318Asn) rs2068716940
NM_002745.5(MAPK1):c.953A>G (p.Asp318Gly) rs2068716907

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