ClinVar Miner

List of variants in gene GRIN2B reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
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.3344G>T (p.Arg1115Leu) rs199514711 0.00001
NM_000834.5(GRIN2B):c.4049C>T (p.Ala1350Val) rs763372245 0.00001
NM_000834.5(GRIN2B):c.4341T>C (p.Cys1447=) rs766970197 0.00001
NM_000834.5(GRIN2B):c.1429G>T (p.Asp477Tyr) rs2136479969
NM_000834.5(GRIN2B):c.1767C>G (p.Leu589=) rs763286576
NM_000834.5(GRIN2B):c.1783C>T (p.Pro595Ser) rs766030730
NM_000834.5(GRIN2B):c.1807G>C (p.Gly603Arg) rs1156304737
NM_000834.5(GRIN2B):c.2001C>A (p.Ser667Arg) rs200392452
NM_000834.5(GRIN2B):c.2011-4C>T rs1447482208
NM_000834.5(GRIN2B):c.2192A>T (p.Tyr731Phe) rs1948686521
NM_000834.5(GRIN2B):c.2260G>A (p.Gly754Arg) rs1555103635
NM_000834.5(GRIN2B):c.2543A>G (p.His848Arg) rs1064797166
NM_000834.5(GRIN2B):c.2613C>T (p.Cys871=) rs1555102646
NM_000834.5(GRIN2B):c.28C>A (p.Pro10Thr) rs1164700607
NM_000834.5(GRIN2B):c.3040C>A (p.Gln1014Lys) rs1555102419
NM_000834.5(GRIN2B):c.337G>A (p.Asp113Asn) rs2136746973
NM_000834.5(GRIN2B):c.3625C>G (p.Arg1209Gly)
NM_000834.5(GRIN2B):c.3890A>G (p.Lys1297Arg) rs916745822
NM_000834.5(GRIN2B):c.4040G>A (p.Ser1347Asn) rs772733555
NM_000834.5(GRIN2B):c.4050CAA[2] (p.Asn1352del) rs761812510
NM_000834.5(GRIN2B):c.4084CAC[2] (p.His1364del) rs1214837315
NM_000834.5(GRIN2B):c.4208C>T (p.Ser1403Phe) rs1948569956

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