ClinVar Miner

List of variants in gene MAP2K2 studied for Noonan syndrome and Noonan-related syndrome

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_030662.4(MAP2K2):c.405G>C (p.Gly135=) rs10424722 0.04706
NM_030662.4(MAP2K2):c.-243C>T rs181533374 0.04405
NM_030662.4(MAP2K2):c.846C>T (p.Pro282=) rs11539506 0.00282
NM_030662.4(MAP2K2):c.580+6G>A rs201435249 0.00183
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.1140C>T (p.Ala380=) rs146618055 0.00034
NM_030662.4(MAP2K2):c.893C>T (p.Pro298Leu) rs200371894 0.00034
NM_030662.4(MAP2K2):c.525C>T (p.Ile175=) rs150833333 0.00029
NM_030662.4(MAP2K2):c.420C>T (p.Asp140=) rs369925884 0.00016
NM_030662.3(MAP2K2):c.*8C>T rs377675706 0.00014
NM_030662.4(MAP2K2):c.1020C>T (p.Pro340=) rs192389729 0.00009
NM_030662.4(MAP2K2):c.450+9G>A rs375368051 0.00006
NM_030662.4(MAP2K2):c.1198G>A (p.Val400Met) rs533247725 0.00005
NM_030662.4(MAP2K2):c.690G>A (p.Thr230=) rs201287884 0.00005
NM_030662.4(MAP2K2):c.1005C>T (p.Asn335=) rs587781028 0.00004
NM_030662.4(MAP2K2):c.93-6C>T rs727504836 0.00004
NM_030662.4(MAP2K2):c.938G>A (p.Arg313Gln) rs151133017 0.00004
NM_030662.4(MAP2K2):c.1176C>T (p.Pro392=) rs529064753 0.00003
NM_030662.4(MAP2K2):c.141C>T (p.Asp47=) rs201526172 0.00003
NM_030662.4(MAP2K2):c.692G>A (p.Arg231His) rs730880511 0.00002
NM_030662.4(MAP2K2):c.102G>C (p.Leu34=) rs549772449 0.00001
NM_030662.4(MAP2K2):c.1092A>C (p.Thr364=) rs779378237 0.00001
NM_030662.4(MAP2K2):c.237C>T (p.Gly79=) rs755173195 0.00001
NM_030662.4(MAP2K2):c.907C>T (p.Arg303Cys) rs770521279 0.00001
NM_030662.4(MAP2K2):c.951C>T (p.Ala317=) rs1041035741 0.00001
NM_030662.4(MAP2K2):c.1106T>C (p.Ile369Thr) rs2145036656
NM_030662.4(MAP2K2):c.284G>A (p.Gly95Asp) rs2145079750
NM_030662.4(MAP2K2):c.291C>A (p.Ile97=) rs200918323
NM_030662.4(MAP2K2):c.351C>G (p.Arg117=) rs777670871
NM_030662.4(MAP2K2):c.400T>C (p.Tyr134His) rs121434499
NM_030662.4(MAP2K2):c.627G>A (p.Lys209=) rs1555696933
NM_030662.4(MAP2K2):c.692G>T (p.Arg231Leu) rs730880511
NM_030662.4(MAP2K2):c.93-15dup rs751442889
NM_030662.4(MAP2K2):c.969C>G (p.Asp323Glu) rs768656734

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