ClinVar Miner

List of variants in gene GRIN2B reported as pathogenic for not provided

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Gene type:
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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_000834.5(GRIN2B):c.1555C>T (p.Arg519Ter) rs774592932 0.00001
NM_000834.5(GRIN2B):c.1177C>T (p.Arg393Ter) rs1555112396
NM_000834.5(GRIN2B):c.1328+1G>A rs1555112323
NM_000834.5(GRIN2B):c.1368C>A (p.Cys456Ter) rs1555112177
NM_000834.5(GRIN2B):c.1372A>T (p.Lys458Ter) rs1057524392
NM_000834.5(GRIN2B):c.1396A>T (p.Lys466Ter) rs1555112166
NM_000834.5(GRIN2B):c.1440_1443dup (p.Thr482fs) rs1131691268
NM_000834.5(GRIN2B):c.1547A>G (p.Asn516Ser) rs886041295
NM_000834.5(GRIN2B):c.1576T>C (p.Ser526Pro) rs1131691702
NM_000834.5(GRIN2B):c.1619G>A (p.Arg540His) rs672601378
NM_000834.5(GRIN2B):c.1654+1G>A
NM_000834.5(GRIN2B):c.1672G>A (p.Val558Ile) rs1057519004
NM_000834.5(GRIN2B):c.1677G>A (p.Trp559Ter) rs398122825
NM_000834.5(GRIN2B):c.1721TCTTTG[1] (p.574VF[1]) rs1555111511
NM_000834.5(GRIN2B):c.1780+2_1780+3delinsGT rs1057518577
NM_000834.5(GRIN2B):c.1823T>A (p.Leu608Ter) rs886043237
NM_000834.5(GRIN2B):c.1848C>A (p.Asn616Lys) rs1949321461
NM_000834.5(GRIN2B):c.1928T>C (p.Leu643Pro) rs2136470302
NM_000834.5(GRIN2B):c.1930G>A (p.Ala644Thr) rs2136470299
NM_000834.5(GRIN2B):c.1931C>A (p.Ala644Asp)
NM_000834.5(GRIN2B):c.1937A>G (p.Tyr646Cys) rs1565474582
NM_000834.5(GRIN2B):c.1954G>C (p.Ala652Pro) rs1555110812
NM_000834.5(GRIN2B):c.2002G>A (p.Asp668Asn) rs876661151
NM_000834.5(GRIN2B):c.2010+1del rs2136470202
NM_000834.5(GRIN2B):c.2010delinsAA (p.Phe671fs)
NM_000834.5(GRIN2B):c.2039del (p.Pro680fs) rs1555103995
NM_000834.5(GRIN2B):c.2044C>T (p.Arg682Cys) rs387906636
NM_000834.5(GRIN2B):c.2065G>A (p.Gly689Ser)
NM_000834.5(GRIN2B):c.2084T>C (p.Ile695Thr) rs876661219
NM_000834.5(GRIN2B):c.2086C>T (p.Arg696Cys)
NM_000834.5(GRIN2B):c.2087G>A (p.Arg696His) rs1555103971
NM_000834.5(GRIN2B):c.2116A>G (p.Met706Val) rs1057518988
NM_000834.5(GRIN2B):c.2252T>C (p.Ile751Thr) rs876661055
NM_000834.5(GRIN2B):c.2341C>G (p.Leu781Val) rs1064796752
NM_000834.5(GRIN2B):c.2410G>T (p.Glu804Ter)
NM_000834.5(GRIN2B):c.2430C>A (p.Ser810Arg) rs864309560
NM_000834.5(GRIN2B):c.2453T>C (p.Met818Thr) rs879254016
NM_000834.5(GRIN2B):c.2458G>C (p.Gly820Arg) rs1555103150
NM_000834.5(GRIN2B):c.2459G>A (p.Gly820Glu) rs797044849
NM_000834.5(GRIN2B):c.2459G>C (p.Gly820Ala) rs797044849
NM_000834.5(GRIN2B):c.2459G>T (p.Gly820Val) rs797044849
NM_000834.5(GRIN2B):c.2461G>T (p.Val821Phe) rs1948651947
NM_000834.5(GRIN2B):c.2477G>A (p.Gly826Glu) rs1064794979
NM_000834.5(GRIN2B):c.2515G>A (p.Glu839Lys) rs1085307547
NM_000834.5(GRIN2B):c.2539C>T (p.Arg847Ter) rs879253931
NM_000834.5(GRIN2B):c.3012C>G (p.Tyr1004Ter) rs201439880
NM_000834.5(GRIN2B):c.3952del (p.Ala1318fs) rs1591605498
NM_000834.5(GRIN2B):c.411+1G>T rs1057519611
NM_000834.5(GRIN2B):c.4168_4169del (p.Thr1390fs) rs1555101670
NM_000834.5(GRIN2B):c.706G>T (p.Glu236Ter) rs1555133077
NM_000834.5(GRIN2B):c.838_839del (p.Val280fs) rs1555133006
NM_000834.5(GRIN2B):c.996del (p.Asn333fs) rs1863518855

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