ClinVar Miner

List of variants in gene GRIK2 reported by Genetic Services Laboratory, University of Chicago

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Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_021956.5(GRIK2):c.2424G>A (p.Glu808=) rs2227283 0.38493
NM_021956.5(GRIK2):c.2312-9C>T rs2227281 0.29456
NM_021956.5(GRIK2):c.1095+7T>C rs6922753 0.26394
NM_021956.5(GRIK2):c.2085+10G>A rs2243355 0.24148
NM_021956.5(GRIK2):c.1281C>G (p.Ser427=) rs34747916 0.04937
NM_021956.5(GRIK2):c.2601G>A (p.Met867Ile) rs2235076 0.01733
NM_021956.5(GRIK2):c.939T>C (p.Asp313=) rs34360565 0.01029
NM_021956.5(GRIK2):c.672T>C (p.Phe224=) rs76072496 0.00646
NM_021956.5(GRIK2):c.2312-8T>G rs180799513 0.00498
NM_021956.5(GRIK2):c.890C>G (p.Ser297Trp) rs61996330 0.00070
NM_021956.5(GRIK2):c.2508T>C (p.Phe836=) rs139415092 0.00067
NM_021956.5(GRIK2):c.924T>C (p.Asp308=) rs146795156 0.00015
NM_021956.5(GRIK2):c.1266G>A (p.Ala422=) rs376836256 0.00010
NM_021956.5(GRIK2):c.613C>T (p.Pro205Ser) rs56067702 0.00010
NM_021956.5(GRIK2):c.1360T>C (p.Tyr454His) rs186727716 0.00007
NM_021956.5(GRIK2):c.1265C>T (p.Ala422Val) rs751662930 0.00004
NM_021956.5(GRIK2):c.2487C>T (p.Ala829=) rs370196358 0.00004
NM_021956.5(GRIK2):c.2238C>T (p.Thr746=) rs770732436 0.00002
NM_021956.5(GRIK2):c.2621G>A (p.Arg874Gln) rs267600750 0.00002
NM_021956.5(GRIK2):c.963T>C (p.Ala321=) rs777602036 0.00002
NM_021956.5(GRIK2):c.1091A>G (p.Lys364Arg) rs1307807230 0.00001
NM_021956.5(GRIK2):c.1287C>T (p.Ser429=) rs752702455 0.00001
NM_021956.5(GRIK2):c.1741A>G (p.Ile581Val) rs1554281005 0.00001
NM_021956.5(GRIK2):c.2072T>C (p.Met691Thr) rs753218875 0.00001
NM_021956.5(GRIK2):c.222T>C (p.Thr74=) rs112817493 0.00001
NM_021956.5(GRIK2):c.472C>T (p.Arg158Cys) rs371606570 0.00001
NM_021956.5(GRIK2):c.1065C>T (p.Phe355=) rs542238643
NM_021956.5(GRIK2):c.2025T>G (p.Ala675=) rs1225063408
NM_021956.5(GRIK2):c.2180G>T (p.Arg727Leu) rs375405316
NM_021956.5(GRIK2):c.2226C>A (p.Ile742=) rs3213607
NM_021956.5(GRIK2):c.2303C>G (p.Thr768Ser) rs748950853
NM_021956.5(GRIK2):c.724-7del rs2243352

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