ClinVar Miner

List of variants in gene MAP2K1 reported as likely benign for Noonan syndrome and Noonan-related syndrome

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_002755.3(MAP2K1):c.-2A>G rs77796976
NM_002755.3(MAP2K1):c.-31dup rs730880340
NM_002755.3(MAP2K1):c.1023-8C>T rs41306345
NM_002755.3(MAP2K1):c.525A>G (p.Lys175=) rs1555416880
NM_002755.3(MAP2K1):c.694-12TC[4] rs113913469
NM_002755.3(MAP2K1):c.69C>T (p.Thr23=) rs140749690
NM_002755.3(MAP2K1):c.726G>T (p.Val242=) rs373745627
NM_002755.3(MAP2K1):c.810G>A (p.Glu270=) rs745891583
NM_002755.3(MAP2K1):c.896-5T>C rs748953467
NM_002755.3(MAP2K1):c.927A>T (p.Ala309=) rs146869577
NM_002755.4(MAP2K1):c.322C>T (p.Arg108Trp)
NM_002755.4(MAP2K1):c.577C>G (p.Pro193Ala)
NM_002755.4(MAP2K1):c.872G>A (p.Arg291Lys)

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