ClinVar Miner

List of variants in gene MAP2K1 reported as likely benign for RASopathy

Included ClinVar conditions (63):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
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NM_002755.3(MAP2K1):c.292-3C>T rs55694358
NM_002755.3(MAP2K1):c.396G>A (p.Ala132=) rs139364105
NM_002755.3(MAP2K1):c.525A>G (p.Lys175=) rs1555416880
NM_002755.3(MAP2K1):c.636C>T (p.Ser212=) rs138466751
NM_002755.3(MAP2K1):c.694-12TC[4] rs113913469
NM_002755.3(MAP2K1):c.810G>A (p.Glu270=) rs745891583
NM_002755.4(MAP2K1):c.-2A>G rs77796976
NM_002755.4(MAP2K1):c.-31dup rs730880340
NM_002755.4(MAP2K1):c.1023-8C>T rs41306345
NM_002755.4(MAP2K1):c.1045A>C (p.Arg349=) rs1595888749
NM_002755.4(MAP2K1):c.12G>A (p.Lys4=) rs1489477346
NM_002755.4(MAP2K1):c.156C>T (p.Ala52=) rs147489724
NM_002755.4(MAP2K1):c.237C>T (p.Gly79=) rs148656020
NM_002755.4(MAP2K1):c.322C>T (p.Arg108Trp) rs1298033161
NM_002755.4(MAP2K1):c.396G>T (p.Ala132=) rs139364105
NM_002755.4(MAP2K1):c.577C>G (p.Pro193Ala) rs1595884713
NM_002755.4(MAP2K1):c.69C>T (p.Thr23=) rs140749690
NM_002755.4(MAP2K1):c.6C>T (p.Pro2=) rs377720622
NM_002755.4(MAP2K1):c.726G>T (p.Val242=) rs373745627
NM_002755.4(MAP2K1):c.872G>A (p.Arg291Lys) rs1595886354
NM_002755.4(MAP2K1):c.896-5T>C rs748953467
NM_002755.4(MAP2K1):c.927A>T (p.Ala309=) rs146869577

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