ClinVar Miner

List of variants in gene MAP2K1 reported as uncertain significance for RASopathy

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_002755.3(MAP2K1):c.1039G>A (p.Ala347Thr) rs746354996
NM_002755.3(MAP2K1):c.126_128TGA[1] (p.Asp43del) rs1555416037
NM_002755.3(MAP2K1):c.292-3C>T rs55694358
NM_002755.3(MAP2K1):c.323G>A (p.Arg108Gln) rs727504819
NM_002755.3(MAP2K1):c.323G>T (p.Arg108Leu) rs727504819
NM_002755.3(MAP2K1):c.364A>G (p.Asn122Asp) rs876657651
NM_002755.3(MAP2K1):c.370C>A (p.Pro124Thr)
NM_002755.3(MAP2K1):c.370C>T (p.Pro124Ser) rs1057519732
NM_002755.3(MAP2K1):c.411C>T (p.Gly137=)
NM_002755.3(MAP2K1):c.503A>G (p.Lys168Arg) rs886051366
NM_002755.3(MAP2K1):c.56C>G (p.Ala19Gly) rs727504413
NM_002755.3(MAP2K1):c.631G>A (p.Val211Ile) rs727505206
NM_002755.3(MAP2K1):c.871A>G (p.Arg291Gly) rs747807884
NM_002755.3(MAP2K1):c.917C>T (p.Pro306Leu) rs1555420826
NM_002755.3(MAP2K1):c.961C>T (p.Pro321Ser)

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