ClinVar Miner

List of variants in gene MAP2K2 reported as benign for RASopathy

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_030662.4(MAP2K2):c.919+12A>G rs350911 0.74641
NM_030662.4(MAP2K2):c.1092+341C>A rs2289859 0.50318
NM_030662.4(MAP2K2):c.660C>A (p.Ile220=) rs10250 0.42547
NM_030662.4(MAP2K2):c.453C>T (p.Asp151=) rs17851657 0.13902
NM_030662.4(MAP2K2):c.192C>T (p.Val64=) rs8157 0.06496
NM_030662.4(MAP2K2):c.450+15G>T rs10424545 0.04749
NM_030662.4(MAP2K2):c.405G>C (p.Gly135=) rs10424722 0.04706
NM_030662.4(MAP2K2):c.528+20A>G rs73918030 0.04206
NM_030662.4(MAP2K2):c.303+18G>A rs116988721 0.00894
NM_030662.4(MAP2K2):c.846C>T (p.Pro282=) rs11539506 0.00282
NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp) rs144383241 0.00222
NM_030662.4(MAP2K2):c.580+6G>A rs201435249 0.00183
NM_030662.4(MAP2K2):c.303+11C>T rs200405512 0.00179
NM_030662.4(MAP2K2):c.498C>T (p.Pro166=) rs139404261 0.00076
NM_030662.4(MAP2K2):c.603C>T (p.Leu201=) rs148291450 0.00072
NM_030662.4(MAP2K2):c.823C>T (p.Leu275=) rs145934142 0.00070
NM_030662.4(MAP2K2):c.844C>T (p.Pro282Ser) rs142307980 0.00070
NM_030662.4(MAP2K2):c.1093-6T>C rs369681843 0.00065
NM_030662.4(MAP2K2):c.1074G>A (p.Ala358=) rs140896887 0.00059
NM_030662.4(MAP2K2):c.303+8C>G rs199612401 0.00054
NM_030662.4(MAP2K2):c.919+11A>T rs572591550 0.00036
NM_030662.4(MAP2K2):c.1140C>T (p.Ala380=) rs146618055 0.00034
NM_030662.4(MAP2K2):c.893C>T (p.Pro298Leu) rs200371894 0.00034
NM_030662.4(MAP2K2):c.93-20A>C rs189388604 0.00032
NM_030662.4(MAP2K2):c.525C>T (p.Ile175=) rs150833333 0.00029
NM_030662.4(MAP2K2):c.1194C>T (p.Thr398=) rs144850779 0.00024
NM_030662.4(MAP2K2):c.450+17C>T rs199892711 0.00021
NM_030662.4(MAP2K2):c.420C>T (p.Asp140=) rs369925884 0.00016
NM_030662.4(MAP2K2):c.529-12G>A rs375701469 0.00014
NM_030662.4(MAP2K2):c.529-15C>T rs778783152 0.00014
NM_030662.4(MAP2K2):c.580+15G>A rs370921720 0.00014
NM_030662.4(MAP2K2):c.1020C>T (p.Pro340=) rs192389729 0.00009
NM_030662.4(MAP2K2):c.825G>A (p.Leu275=) rs587781027 0.00007
NM_030662.4(MAP2K2):c.581-18G>A rs372759920 0.00006
NM_030662.4(MAP2K2):c.690G>A (p.Thr230=) rs201287884 0.00005
NM_030662.4(MAP2K2):c.528+11C>T rs369913089 0.00004
NM_030662.4(MAP2K2):c.141C>T (p.Asp47=) rs201526172 0.00003
NM_030662.4(MAP2K2):c.225C>T (p.Ile75=) rs561400866
NM_030662.4(MAP2K2):c.291C>A (p.Ile97=) rs200918323
NM_030662.4(MAP2K2):c.303+15del rs758256765
NM_030662.4(MAP2K2):c.546G>A (p.Ala182=) rs141402203
NM_030662.4(MAP2K2):c.581-19C>T rs573730409
NM_030662.4(MAP2K2):c.705+11G>A rs202086678
NM_030662.4(MAP2K2):c.705+11G>C rs202086678
NM_030662.4(MAP2K2):c.93-15dup rs751442889

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