ClinVar Miner

List of variants in gene MAP2K2 reported as likely benign for Noonan syndrome and Noonan-related syndrome

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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NM_030662.3(MAP2K2):c.*8C>T rs377675706
NM_030662.3(MAP2K2):c.1140C>T (p.Ala380=) rs146618055
NM_030662.3(MAP2K2):c.1187C>T (p.Thr396Met) rs117945277
NM_030662.3(MAP2K2):c.240G>A (p.Ala80=) rs543217722
NM_030662.3(MAP2K2):c.325C>G (p.Pro109Ala) rs1060502983
NM_030662.3(MAP2K2):c.390C>T (p.Ile130=) rs749956316
NM_030662.3(MAP2K2):c.402C>T (p.Tyr134=) rs753713281
NM_030662.3(MAP2K2):c.45C>T (p.Asn15=) rs767770776
NM_030662.3(MAP2K2):c.535C>T (p.Arg179Trp) rs370799450
NM_030662.3(MAP2K2):c.580+6G>A rs201435249
NM_030662.3(MAP2K2):c.813C>T (p.Asp271=) rs201726622
NM_030662.3(MAP2K2):c.818A>G (p.Lys273Arg) rs539555837
NM_030662.3(MAP2K2):c.847G>T (p.Val283Leu) rs185999703
NM_030662.3(MAP2K2):c.861A>G (p.Glu287=) rs1431720692
NM_030662.3(MAP2K2):c.96A>G (p.Ala32=) rs1555698705
NM_030662.4(MAP2K2):c.149A>G (p.Gln50Arg)
NM_030662.4(MAP2K2):c.811G>A (p.Asp271Asn)

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