ClinVar Miner

List of variants in gene MAP2K1 studied for Noonan syndrome

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Total variants: 9
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HGVS dbSNP
NM_002755.4(MAP2K1):c.308T>C (p.Ile103Thr)
NM_002755.4(MAP2K1):c.322C>T (p.Arg108Trp) rs1298033161
NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp) rs876657651
NM_002755.4(MAP2K1):c.370C>T (p.Pro124Ser) rs1057519732
NM_002755.4(MAP2K1):c.577C>G (p.Pro193Ala) rs1595884713
NM_002755.4(MAP2K1):c.608A>C (p.Glu203Ala)
NM_002755.4(MAP2K1):c.608A>G (p.Glu203Gly) rs727503996
NM_002755.4(MAP2K1):c.694-12TC[4] rs113913469
NM_002755.4(MAP2K1):c.872G>A (p.Arg291Lys) rs1595886354

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