ClinVar Miner

List of variants in gene MAP2K1 studied for Noonan syndrome

Included ClinVar conditions (26):
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Gene type:
ClinVar version:
Total variants: 17
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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.1072C>T
NM_002755.3(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_002755.3(MAP2K1):c.322C>T
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>T (p.Pro124Ser) rs1057519732
NM_002755.3(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002755.3(MAP2K1):c.503A>G (p.Lys168Arg) rs886051366
NM_002755.3(MAP2K1):c.577C>G
NM_002755.3(MAP2K1):c.608A>G rs727503996
NM_002755.3(MAP2K1):c.694-12TC[4] rs113913469
NM_002755.3(MAP2K1):c.872G>A
NM_002755.3(MAP2K1):c.927A>T (p.Ala309=) rs146869577
NM_002755.3(MAP2K1):c.961C>T (p.Pro321Ser)

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