ClinVar Miner

Variants in gene GRIN2B with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 15
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HGVS dbSNP gnomAD frequency
NM_000834.5(GRIN2B):c.*1230G>C rs151270374 0.00172
NM_000834.5(GRIN2B):c.3747C>T (p.Gly1249=) rs138771137 0.00063
NM_000834.5(GRIN2B):c.2931C>G (p.Asp977Glu) rs147956755 0.00029
NM_000834.5(GRIN2B):c.3076G>A (p.Gly1026Ser) rs201963596 0.00011
NM_000834.5(GRIN2B):c.140A>G (p.Glu47Gly) rs199526748 0.00008
NM_000834.5(GRIN2B):c.1768G>A (p.Ala590Thr) rs145021339 0.00006
NM_000834.5(GRIN2B):c.3047G>A (p.Arg1016Lys) rs141109968 0.00006
NM_000834.5(GRIN2B):c.275G>A (p.Arg92Gln) rs201966022 0.00004
NM_000834.5(GRIN2B):c.3993G>A (p.Met1331Ile) rs200035225 0.00004
NM_000834.5(GRIN2B):c.1125G>A (p.Arg375=) rs200126922 0.00003
NM_000834.5(GRIN2B):c.2011-8C>G rs774971411 0.00001
NM_000834.5(GRIN2B):c.381C>T (p.His127=) rs200608452 0.00001
NM_000834.5(GRIN2B):c.3981G>A (p.Lys1327=) rs201670483 0.00001
NM_000834.5(GRIN2B):c.4049C>T (p.Ala1350Val) rs763372245 0.00001
NM_000834.5(GRIN2B):c.4309G>A (p.Ala1437Thr) rs797045608

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