ClinVar Miner

List of variants in gene MAP2K2 reported as likely benign for RASopathy

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 34
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HGVS dbSNP
NM_030662.3(MAP2K2):c.*8C>T rs377675706
NM_030662.3(MAP2K2):c.1074G>A (p.Ala358=) rs140896887
NM_030662.3(MAP2K2):c.1093-6T>C rs369681843
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.1194C>T (p.Thr398=) rs144850779
NM_030662.3(MAP2K2):c.149A>G
NM_030662.3(MAP2K2):c.207C>T (p.Asp69=) rs199850535
NM_030662.3(MAP2K2):c.240G>A (p.Ala80=) rs543217722
NM_030662.3(MAP2K2):c.274A>G (p.Arg92Gly) rs759061964
NM_030662.3(MAP2K2):c.279C>T (p.Pro93=) rs1060504778
NM_030662.3(MAP2K2):c.325C>G (p.Pro109Ala) rs1060502983
NM_030662.3(MAP2K2):c.33G>A (p.Ala11=) rs368233443
NM_030662.3(MAP2K2):c.390C>T (p.Ile130=) rs749956316
NM_030662.3(MAP2K2):c.39C>T (p.Thr13=) rs752951050
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.477G>A (p.Leu159=) rs748135585
NM_030662.3(MAP2K2):c.525C>T (p.Ile175=) rs150833333
NM_030662.3(MAP2K2):c.535C>T (p.Arg179Trp) rs370799450
NM_030662.3(MAP2K2):c.546G>A (p.Ala182=) rs141402203
NM_030662.3(MAP2K2):c.580+6G>A rs201435249
NM_030662.3(MAP2K2):c.678C>T (p.Ser226=) rs200874968
NM_030662.3(MAP2K2):c.783C>T (p.Ala261=) rs1060504779
NM_030662.3(MAP2K2):c.811G>A
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.903C>T (p.Pro301=) rs560316877
NM_030662.3(MAP2K2):c.909C>T (p.Arg303=) rs1060504777
NM_030662.3(MAP2K2):c.93-6C>T rs727504836
NM_030662.3(MAP2K2):c.96A>G (p.Ala32=) rs1555698705
NM_030662.3(MAP2K2):c.981C>T (p.Asn327=) rs143275018

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