ClinVar Miner

Variants in gene MAP2K2 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 26
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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.498C>T (p.Pro166=) rs139404261 0.00076
NM_030662.4(MAP2K2):c.678C>T (p.Ser226=) rs200874968 0.00026
NM_030662.4(MAP2K2):c.919+10G>A rs780890887 0.00018
NM_030662.4(MAP2K2):c.919+4C>T rs763424788 0.00009
NM_030662.4(MAP2K2):c.853G>A (p.Asp285Asn) rs150369301 0.00008
NM_030662.4(MAP2K2):c.1112G>A (p.Arg371Gln) rs730880514 0.00006
NM_030662.4(MAP2K2):c.451-7C>T rs780396876 0.00006
NM_030662.4(MAP2K2):c.281C>T (p.Ser94Leu) rs202220799 0.00005
NM_030662.4(MAP2K2):c.536G>A (p.Arg179Gln) rs776316565 0.00005
NM_030662.4(MAP2K2):c.1187C>T (p.Thr396Met) rs117945277 0.00004
NM_030662.4(MAP2K2):c.274A>G (p.Arg92Gly) rs759061964 0.00004
NM_030662.4(MAP2K2):c.648C>T (p.Ser216=) rs147276536 0.00004
NM_030662.4(MAP2K2):c.93-6C>T rs727504836 0.00004
NM_030662.4(MAP2K2):c.581-9C>T rs539611844 0.00003
NM_030662.4(MAP2K2):c.450+14G>A rs397517414 0.00002
NM_030662.4(MAP2K2):c.529-10T>C rs551098822 0.00002
NM_030662.4(MAP2K2):c.535C>T (p.Arg179Trp) rs370799450 0.00002
NM_030662.4(MAP2K2):c.952A>G (p.Ile318Val) rs1064797064 0.00002
NM_030662.4(MAP2K2):c.529-5T>C rs766943752 0.00001
NM_030662.4(MAP2K2):c.814G>A (p.Ala272Thr) rs757240576 0.00001
NM_030662.4(MAP2K2):c.291C>G (p.Ile97Met) rs200918323
NM_030662.4(MAP2K2):c.806C>G (p.Pro269Arg) rs368064728
NM_030662.4(MAP2K2):c.813C>G (p.Asp271Glu) rs201726622
NM_030662.4(MAP2K2):c.860AAG[1] (p.Glu288del) rs763469132
NM_030662.4(MAP2K2):c.919+10_919+12delinsAAG rs1064794489

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