ClinVar Miner

List of variants in gene GRIN2B reported as pathogenic for infantile spasms

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_000834.5(GRIN2B):c.1555C>T (p.Arg519Ter) rs774592932 0.00001
NC_000012.11:g.(?_13828659)_(13828813_?)del
NC_000012.11:g.(?_13906231)_(13906869_?)del
NM_000834.5(GRIN2B):c.1011-1G>C
NM_000834.5(GRIN2B):c.1223T>C (p.Ile408Thr)
NM_000834.5(GRIN2B):c.1345G>T (p.Glu449Ter) rs1555112186
NM_000834.5(GRIN2B):c.1547A>G (p.Asn516Ser) rs886041295
NM_000834.5(GRIN2B):c.1556G>A (p.Arg519Gln)
NM_000834.5(GRIN2B):c.1577del (p.Ser526fs)
NM_000834.5(GRIN2B):c.1598G>A (p.Gly533Asp) rs1060499659
NM_000834.5(GRIN2B):c.1621A>G (p.Ser541Gly)
NM_000834.5(GRIN2B):c.1623C>A (p.Ser541Arg)
NM_000834.5(GRIN2B):c.1628G>A (p.Gly543Glu) rs2136479365
NM_000834.5(GRIN2B):c.1664G>A (p.Ser555Asn) rs1949369220
NM_000834.5(GRIN2B):c.1664G>C (p.Ser555Thr)
NM_000834.5(GRIN2B):c.1672G>A (p.Val558Ile) rs1057519004
NM_000834.5(GRIN2B):c.1675T>C (p.Trp559Arg) rs1949368959
NM_000834.5(GRIN2B):c.1821G>A (p.Trp607Ter) rs1057518700
NM_000834.5(GRIN2B):c.1832G>T (p.Gly611Val) rs1555110843
NM_000834.5(GRIN2B):c.1844A>T (p.Asn615Ile) rs672601377
NM_000834.5(GRIN2B):c.1853T>G (p.Val618Gly) rs672601376
NM_000834.5(GRIN2B):c.1928T>C (p.Leu643Pro) rs2136470302
NM_000834.5(GRIN2B):c.1966C>T (p.Gln656Ter) rs1135401799
NM_000834.5(GRIN2B):c.1970A>G (p.Glu657Gly) rs876661041
NM_000834.5(GRIN2B):c.2002G>A (p.Asp668Asn) rs876661151
NM_000834.5(GRIN2B):c.2002G>T (p.Asp668Tyr) rs876661151
NM_000834.5(GRIN2B):c.2045G>A (p.Arg682His) rs886041095
NM_000834.5(GRIN2B):c.2053A>C (p.Thr685Pro) rs869312669
NM_000834.5(GRIN2B):c.2056G>A (p.Val686Met) rs2136415913
NM_000834.5(GRIN2B):c.2065G>A (p.Gly689Ser)
NM_000834.5(GRIN2B):c.2087G>A (p.Arg696His) rs1555103971
NM_000834.5(GRIN2B):c.2150C>T (p.Ala717Val) rs2136415648
NM_000834.5(GRIN2B):c.2216T>C (p.Met739Thr) rs1555103652
NM_000834.5(GRIN2B):c.2252T>C (p.Ile751Thr) rs876661055
NM_000834.5(GRIN2B):c.2344C>T (p.Gln782Ter)
NM_000834.5(GRIN2B):c.2352_2359+2dup
NM_000834.5(GRIN2B):c.2368G>T (p.Glu790Ter)
NM_000834.5(GRIN2B):c.2392A>C (p.Thr798Pro) rs1948653017
NM_000834.5(GRIN2B):c.2410G>A (p.Glu804Lys) rs1555103172
NM_000834.5(GRIN2B):c.2434C>T (p.Gln812Ter) rs1555103165
NM_000834.5(GRIN2B):c.2437C>G (p.Leu813Val) rs1948652423
NM_000834.5(GRIN2B):c.2453T>C (p.Met818Thr) rs879254016
NM_000834.5(GRIN2B):c.2455G>A (p.Ala819Thr) rs1948652117
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.2480C>A (p.Ala827Glu) rs748075089
NM_000834.5(GRIN2B):c.2514C>A (p.Cys838Ter)
NM_000834.5(GRIN2B):c.2539C>T (p.Arg847Ter) rs879253931
NM_000834.5(GRIN2B):c.2560del (p.Cys854fs)
NM_000834.5(GRIN2B):c.2755C>T (p.Gln919Ter) rs1555102548
NM_000834.5(GRIN2B):c.3332G>A (p.Arg1111His) rs876661167
NM_000834.5(GRIN2B):c.3558del (p.Lys1186fs)
NM_000834.5(GRIN2B):c.3789_3837dup (p.Lys1280delinsGlyProAlaGlyCysProSerGlyGlyAspValLysArgLeuHisHisTer) rs2136403635

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