ClinVar Miner

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

Included ClinVar conditions (63):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_030662.4(MAP2K2):c.919+12A>G rs350911 0.74641
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.405G>C (p.Gly135=) rs10424722 0.04706
NM_030662.4(MAP2K2):c.-243C>T rs181533374 0.04405
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.498C>T (p.Pro166=) rs139404261 0.00076
NM_030662.4(MAP2K2):c.603C>T (p.Leu201=) rs148291450 0.00072
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.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.450+17C>T rs199892711 0.00021
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.581-8G>A rs369262004 0.00012
NM_030662.4(MAP2K2):c.1020C>T (p.Pro340=) rs192389729 0.00009
NM_030662.4(MAP2K2):c.919+4C>T rs763424788 0.00009
NM_030662.4(MAP2K2):c.258C>A (p.Val86=) rs148437150 0.00008
NM_030662.4(MAP2K2):c.853G>A (p.Asp285Asn) rs150369301 0.00008
NM_030662.4(MAP2K2):c.450+9G>A rs375368051 0.00006
NM_030662.4(MAP2K2):c.604G>A (p.Val202Met) rs769471250 0.00006
NM_030662.4(MAP2K2):c.890G>A (p.Arg297Gln) rs140111079 0.00006
NM_030662.4(MAP2K2):c.1198G>A (p.Val400Met) rs533247725 0.00005
NM_030662.4(MAP2K2):c.281C>T (p.Ser94Leu) rs202220799 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.1187C>T (p.Thr396Met) rs117945277 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.217G>A (p.Glu73Lys) rs187018595 0.00003
NM_030662.4(MAP2K2):c.818A>G (p.Lys273Arg) rs539555837 0.00003
NM_030662.4(MAP2K2):c.326C>T (p.Pro109Leu) rs544242665 0.00002
NM_030662.4(MAP2K2):c.528G>A (p.Ala176=) rs767939999 0.00002
NM_030662.4(MAP2K2):c.535C>T (p.Arg179Trp) rs370799450 0.00002
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.247G>A (p.Gly83Ser) rs765755554 0.00001
NM_030662.4(MAP2K2):c.661G>A (p.Asp221Asn) rs2041001051 0.00001
NM_030662.4(MAP2K2):c.811G>A (p.Asp271Asn) rs758031424 0.00001
NM_030662.4(MAP2K2):c.814G>A (p.Ala272Thr) rs757240576 0.00001
NM_030662.4(MAP2K2):c.907C>T (p.Arg303Cys) rs770521279 0.00001
NM_030662.4(MAP2K2):c.937C>T (p.Arg313Trp) rs772831628 0.00001
NM_030662.4(MAP2K2):c.951C>T (p.Ala317=) rs1041035741 0.00001
NM_030662.4(MAP2K2):c.971A>G (p.Tyr324Cys) rs730880512 0.00001
NM_030662.4(MAP2K2):c.1042A>G (p.Lys348Glu) rs1460336485
NM_030662.4(MAP2K2):c.1106T>C (p.Ile369Thr) rs2145036656
NM_030662.4(MAP2K2):c.1109A>G (p.Lys370Arg) rs1599278009
NM_030662.4(MAP2K2):c.149A>G (p.Gln50Arg) rs1599307416
NM_030662.4(MAP2K2):c.167C>A (p.Ala56Asp)
NM_030662.4(MAP2K2):c.169T>G (p.Phe57Val) rs121434498
NM_030662.4(MAP2K2):c.170T>G (p.Phe57Cys) rs121434497
NM_030662.4(MAP2K2):c.181A>G (p.Lys61Glu) rs730880517
NM_030662.4(MAP2K2):c.183A>C (p.Lys61Asn) rs886041310
NM_030662.4(MAP2K2):c.183A>T (p.Lys61Asn) rs886041310
NM_030662.4(MAP2K2):c.187_192del (p.Lys63_Val64del) rs1599307313
NM_030662.4(MAP2K2):c.191T>G (p.Val64Gly) rs1135401787
NM_030662.4(MAP2K2):c.284G>A (p.Gly95Asp) rs2145079750
NM_030662.4(MAP2K2):c.288CAT[1] (p.Ile97del) rs1555698652
NM_030662.4(MAP2K2):c.291C>A (p.Ile97=) rs200918323
NM_030662.4(MAP2K2):c.300G>T (p.Arg100Ser) rs2041236830
NM_030662.4(MAP2K2):c.325C>G (p.Pro109Ala) rs1060502983
NM_030662.4(MAP2K2):c.335G>T (p.Arg112Leu) rs2041142587
NM_030662.4(MAP2K2):c.351C>G (p.Arg117=) rs777670871
NM_030662.4(MAP2K2):c.376A>G (p.Asn126Asp) rs1057519806
NM_030662.4(MAP2K2):c.383C>A (p.Pro128Gln) rs267607230
NM_030662.4(MAP2K2):c.395G>A (p.Gly132Asp) rs387906800
NM_030662.4(MAP2K2):c.400T>C (p.Tyr134His) rs121434499
NM_030662.4(MAP2K2):c.401A>G (p.Tyr134Cys) rs727504370
NM_030662.4(MAP2K2):c.404G>T (p.Gly135Val)
NM_030662.4(MAP2K2):c.523A>G (p.Ile175Val) rs373325880
NM_030662.4(MAP2K2):c.619G>A (p.Glu207Lys) rs727504382
NM_030662.4(MAP2K2):c.627G>A (p.Lys209=) rs1555696933
NM_030662.4(MAP2K2):c.640G>A (p.Gly214Arg)
NM_030662.4(MAP2K2):c.643G>T (p.Val215Leu)
NM_030662.4(MAP2K2):c.650G>C (p.Gly217Ala)
NM_030662.4(MAP2K2):c.692G>T (p.Arg231Leu) rs730880511
NM_030662.4(MAP2K2):c.705+11G>C rs202086678
NM_030662.4(MAP2K2):c.712C>T (p.Arg238Trp)
NM_030662.4(MAP2K2):c.903dup (p.Gly302fs)
NM_030662.4(MAP2K2):c.93-15dup rs751442889
NM_030662.4(MAP2K2):c.969C>G (p.Asp323Glu) rs768656734
NM_030662.4(MAP2K2):c.985-19C>A rs987549297

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