ClinVar Miner

List of variants in gene MAP2K2 reported as benign for RASopathy

Included ClinVar conditions (55):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP
NM_030662.3(MAP2K2):c.-18_-16delCCG rs397517411
NM_030662.3(MAP2K2):c.1020C>T (p.Pro340=) rs192389729
NM_030662.3(MAP2K2):c.1074G>A (p.Ala358=) rs140896887
NM_030662.3(MAP2K2):c.1093-6T>C rs369681843
NM_030662.3(MAP2K2):c.1162C>T (p.Arg388Trp) rs144383241
NM_030662.3(MAP2K2):c.1194C>T (p.Thr398=) rs144850779
NM_030662.3(MAP2K2):c.141C>T (p.Asp47=) rs201526172
NM_030662.3(MAP2K2):c.192C>T (p.Val64=) rs8157
NM_030662.3(MAP2K2):c.225C>T (p.Ile75=) rs561400866
NM_030662.3(MAP2K2):c.291C>A (p.Ile97=) rs200918323
NM_030662.3(MAP2K2):c.303+8C>G rs199612401
NM_030662.3(MAP2K2):c.405G>C (p.Gly135=) rs10424722
NM_030662.3(MAP2K2):c.420C>T (p.Asp140=) rs369925884
NM_030662.3(MAP2K2):c.453C>T (p.Asp151=) rs17851657
NM_030662.3(MAP2K2):c.498C>T (p.Pro166=) rs139404261
NM_030662.3(MAP2K2):c.525C>T (p.Ile175=) rs150833333
NM_030662.3(MAP2K2):c.546G>A (p.Ala182=) rs141402203
NM_030662.3(MAP2K2):c.580+6G>A rs201435249
NM_030662.3(MAP2K2):c.603C>T (p.Leu201=) rs148291450
NM_030662.3(MAP2K2):c.660C>A (p.Ile220=) rs10250
NM_030662.3(MAP2K2):c.690G>A (p.Thr230=) rs201287884
NM_030662.3(MAP2K2):c.823C>T (p.Leu275=) rs145934142
NM_030662.3(MAP2K2):c.825G>A (p.Leu275=) rs587781027
NM_030662.3(MAP2K2):c.844C>T (p.Pro282Ser) rs142307980
NM_030662.3(MAP2K2):c.846C>T (p.Pro282=) rs11539506
NM_030662.3(MAP2K2):c.893C>T (p.Pro298Leu) rs200371894
NM_030662.3(MAP2K2):c.919+12A>G rs350911

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