ClinVar Miner

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

Included ClinVar conditions (37):
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.-31dupC rs730880340
NM_002755.3(MAP2K1):c.1023-8C>T rs41306345
NM_002755.3(MAP2K1):c.237C>T (p.Gly79=) rs148656020
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.694-8_694-7dup rs113913469
NM_002755.3(MAP2K1):c.69C>T (p.Thr23=) rs140749690
NM_002755.3(MAP2K1):c.6C>T (p.Pro2=) rs377720622
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

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