ClinVar Miner

List of variants in gene MAP2K2 reported as uncertain significance for Noonan syndrome and Noonan-related syndrome

Included ClinVar conditions (63):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp) rs144383241 0.00222
NM_030662.4(MAP2K2):c.844C>T (p.Pro282Ser) rs142307980 0.00070
NM_030662.4(MAP2K2):c.853G>A (p.Asp285Asn) rs150369301 0.00008
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.281C>T (p.Ser94Leu) rs202220799 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.938G>A (p.Arg313Gln) rs151133017 0.00004
NM_030662.4(MAP2K2):c.1176C>T (p.Pro392=) rs529064753 0.00003
NM_030662.4(MAP2K2):c.217G>A (p.Glu73Lys) rs187018595 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.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.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.183A>T (p.Lys61Asn) rs886041310
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.300G>T (p.Arg100Ser) rs2041236830
NM_030662.4(MAP2K2):c.351C>G (p.Arg117=) rs777670871
NM_030662.4(MAP2K2):c.523A>G (p.Ile175Val) rs373325880
NM_030662.4(MAP2K2):c.627G>A (p.Lys209=) rs1555696933
NM_030662.4(MAP2K2):c.650G>C (p.Gly217Ala)
NM_030662.4(MAP2K2):c.692G>T (p.Arg231Leu) rs730880511
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

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