ClinVar Miner

List of variants in gene GRIN2B reported as uncertain significance for Mental retardation, autosomal dominant 6; Epileptic encephalopathy, early infantile, 27

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Total variants: 114
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HGVS dbSNP
NM_000834.4(GRIN2B):c.1147T>G (p.Ser383Ala) rs199671864
NM_000834.4(GRIN2B):c.1287C>T (p.Cys429=) rs747172511
NM_000834.4(GRIN2B):c.1547A>G (p.Asn516Ser) rs886041295
NM_000834.4(GRIN2B):c.1705G>A (p.Val569Ile) rs1293991066
NM_000834.4(GRIN2B):c.1768G>A (p.Ala590Thr) rs145021339
NM_000834.4(GRIN2B):c.1781-3C>T rs201520798
NM_000834.4(GRIN2B):c.190G>A (p.Val64Met) rs150070901
NM_000834.4(GRIN2B):c.2002G>A (p.Asp668Asn) rs876661151
NM_000834.4(GRIN2B):c.2011-8C>G rs774971411
NM_000834.4(GRIN2B):c.2053A>C (p.Thr685Pro) rs869312669
NM_000834.4(GRIN2B):c.2064C>A (p.Asn688Lys) rs748606750
NM_000834.4(GRIN2B):c.2078G>C (p.Arg693Thr) rs1565457884
NM_000834.4(GRIN2B):c.2087G>A (p.Arg696His) rs1555103971
NM_000834.4(GRIN2B):c.2099C>G (p.Ala700Gly) rs1191539298
NM_000834.4(GRIN2B):c.2125T>G (p.Phe709Val) rs1591612279
NM_000834.4(GRIN2B):c.2177T>C (p.Leu726Pro) rs1591611012
NM_000834.4(GRIN2B):c.23G>C (p.Cys8Ser) rs1060503160
NM_000834.4(GRIN2B):c.2422G>A (p.Val808Ile) rs1565455923
NM_000834.4(GRIN2B):c.2453T>G (p.Met818Arg) rs879254016
NM_000834.4(GRIN2B):c.2459G>A (p.Gly820Glu) rs797044849
NM_000834.4(GRIN2B):c.2510T>C (p.Ile837Thr) rs1565455844
NM_000834.4(GRIN2B):c.2530T>C (p.Trp844Arg) rs138088984
NM_000834.4(GRIN2B):c.2540G>A (p.Arg847Gln) rs1591608943
NM_000834.4(GRIN2B):c.2813G>A (p.Arg938His) rs150445188
NM_000834.4(GRIN2B):c.2854C>T (p.Pro952Ser) rs1565454641
NM_000834.4(GRIN2B):c.2931C>G (p.Asp977Glu) rs147956755
NM_000834.4(GRIN2B):c.2936A>T (p.Asn979Ile) rs796052574
NM_000834.4(GRIN2B):c.2960A>G (p.His987Arg) rs765183831
NM_000834.4(GRIN2B):c.3043T>G (p.Ser1015Ala) rs574130239
NM_000834.4(GRIN2B):c.3085_3087TCC[1] (p.Ser1030del) rs878854145
NM_000834.4(GRIN2B):c.3102G>C (p.Gln1034His) rs1204745546
NM_000834.4(GRIN2B):c.3118G>A (p.Gly1040Ser) rs202222002
NM_000834.4(GRIN2B):c.3202G>A (p.Val1068Ile) rs749434579
NM_000834.4(GRIN2B):c.3367T>C (p.Phe1123Leu) rs1591606392
NM_000834.4(GRIN2B):c.3400C>G (p.Leu1134Val) rs979079013
NM_000834.4(GRIN2B):c.3409T>A (p.Phe1137Ile) rs1060503159
NM_000834.4(GRIN2B):c.3413G>T (p.Arg1138Leu) rs187979330
NM_000834.4(GRIN2B):c.3415A>G (p.Thr1139Ala) rs200237781
NM_000834.4(GRIN2B):c.3473G>C (p.Arg1158Pro) rs143955920
NM_000834.4(GRIN2B):c.3493G>A (p.Asp1165Asn) rs769857006
NM_000834.4(GRIN2B):c.3499G>A (p.Val1167Ile) rs1042339
NM_000834.4(GRIN2B):c.3505G>A (p.Gly1169Arg) rs777639067
NM_000834.4(GRIN2B):c.3683C>T (p.Thr1228Met) rs75670883
NM_000834.4(GRIN2B):c.3797C>T (p.Pro1266Leu) rs201947553
NM_000834.4(GRIN2B):c.3838A>G (p.Lys1280Glu) rs772502958
NM_000834.4(GRIN2B):c.3886A>C (p.Asn1296His) rs1555101871
NM_000834.4(GRIN2B):c.3946G>A (p.Ala1316Thr) rs199803550
NM_000834.4(GRIN2B):c.3964G>C (p.Val1322Leu) rs200255226
NM_000834.4(GRIN2B):c.3981G>A (p.Lys1327=) rs201670483
NM_000834.4(GRIN2B):c.3993G>A (p.Met1331Ile) rs200035225
NM_000834.4(GRIN2B):c.4015_4016del (p.Met1339fs) rs1565453023
NM_000834.4(GRIN2B):c.4041C>A (p.Ser1347Arg) rs769147604
NM_000834.4(GRIN2B):c.4066G>A (p.Val1356Met) rs796052579
NM_000834.4(GRIN2B):c.4084_4086CAC[2] (p.His1364del) rs1214837315
NM_000834.4(GRIN2B):c.4107C>T (p.Gly1369=) rs201732760
NM_000834.4(GRIN2B):c.4196A>G (p.His1399Arg) rs1565452791
NM_000834.4(GRIN2B):c.4241C>T (p.Ala1414Val) rs751107971
NM_000834.4(GRIN2B):c.4270C>T (p.Leu1424Phe) rs748128078
NM_000834.4(GRIN2B):c.4307G>C (p.Gly1436Ala) rs1565452616
NM_000834.4(GRIN2B):c.4322G>A (p.Arg1441His) rs200903876
NM_000834.4(GRIN2B):c.4326C>G (p.Phe1442Leu) rs1565452565
NM_000834.4(GRIN2B):c.4432T>C (p.Ser1478Pro) rs910793751
NM_000834.4(GRIN2B):c.52G>A (p.Val18Ile) rs201094029
NM_000834.4(GRIN2B):c.542A>G (p.Asp181Gly) rs1060503161
NM_000834.4(GRIN2B):c.674G>A (p.Ser225Asn) rs1060503158
NM_000834.4(GRIN2B):c.923T>C (p.Leu308Pro) rs1565524674
NM_000834.5(GRIN2B):c.1011G>A (p.Arg337=)
NM_000834.5(GRIN2B):c.1125+4A>G
NM_000834.5(GRIN2B):c.1318A>G (p.Ile440Val)
NM_000834.5(GRIN2B):c.1329-8T>A
NM_000834.5(GRIN2B):c.1525G>A (p.Ala509Thr)
NM_000834.5(GRIN2B):c.1674A>G (p.Val558=)
NM_000834.5(GRIN2B):c.170A>T (p.Asp57Val)
NM_000834.5(GRIN2B):c.196C>T (p.Pro66Ser)
NM_000834.5(GRIN2B):c.232C>A (p.Pro78Thr)
NM_000834.5(GRIN2B):c.2480C>A (p.Ala827Glu)
NM_000834.5(GRIN2B):c.2638C>T (p.Arg880Cys)
NM_000834.5(GRIN2B):c.2644T>G (p.Ser882Ala)
NM_000834.5(GRIN2B):c.2755C>A (p.Gln919Lys)
NM_000834.5(GRIN2B):c.275G>A (p.Arg92Gln)
NM_000834.5(GRIN2B):c.2780G>A (p.Arg927Gln)
NM_000834.5(GRIN2B):c.282C>G (p.Ile94Met)
NM_000834.5(GRIN2B):c.2834_2837dup (p.Cys946Ter)
NM_000834.5(GRIN2B):c.2854C>G (p.Pro952Ala)
NM_000834.5(GRIN2B):c.2855C>T (p.Pro952Leu)
NM_000834.5(GRIN2B):c.2861G>A (p.Cys954Tyr)
NM_000834.5(GRIN2B):c.2914_2919dup (p.Asn972_Leu973dup)
NM_000834.5(GRIN2B):c.3127T>G (p.Ser1043Ala)
NM_000834.5(GRIN2B):c.3141C>A (p.Asp1047Glu)
NM_000834.5(GRIN2B):c.3142C>G (p.Arg1048Gly)
NM_000834.5(GRIN2B):c.3338C>T (p.Pro1113Leu)
NM_000834.5(GRIN2B):c.3343C>A (p.Arg1115Ser)
NM_000834.5(GRIN2B):c.3365A>G (p.Tyr1122Cys)
NM_000834.5(GRIN2B):c.3400_3416del (p.Leu1134fs)
NM_000834.5(GRIN2B):c.3416C>A (p.Thr1139Lys)
NM_000834.5(GRIN2B):c.3473G>A (p.Arg1158Gln)
NM_000834.5(GRIN2B):c.364C>T (p.Pro122Ser)
NM_000834.5(GRIN2B):c.3685G>A (p.Val1229Met)
NM_000834.5(GRIN2B):c.3782A>T (p.Gln1261Leu)
NM_000834.5(GRIN2B):c.3799G>A (p.Ala1267Thr)
NM_000834.5(GRIN2B):c.3851G>T (p.Ser1284Ile)
NM_000834.5(GRIN2B):c.3920T>C (p.Phe1307Ser)
NM_000834.5(GRIN2B):c.4017G>A (p.Met1339Ile)
NM_000834.5(GRIN2B):c.4031C>T (p.Ala1344Val)
NM_000834.5(GRIN2B):c.4049C>T (p.Ala1350Val)
NM_000834.5(GRIN2B):c.4203C>T (p.Ser1401=)
NM_000834.5(GRIN2B):c.4229C>G (p.Thr1410Arg)
NM_000834.5(GRIN2B):c.4310C>T (p.Ala1437Val)
NM_000834.5(GRIN2B):c.4321C>T (p.Arg1441Cys)
NM_000834.5(GRIN2B):c.4375A>G (p.Asn1459Asp)
NM_000834.5(GRIN2B):c.4390G>C (p.Ala1464Pro)
NM_000834.5(GRIN2B):c.4437del (p.Ser1479fs)
NM_000834.5(GRIN2B):c.868C>T (p.Pro290Ser)
NM_000834.5(GRIN2B):c.958A>G (p.Ser320Gly)

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