ClinVar Miner

List of variants in gene GRIN2B reported as likely pathogenic by GeneDx

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Gene type:
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Total variants: 21
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HGVS dbSNP gnomAD frequency
GRCh38/hg38 12p13.1(chr12:13634987-13726033)x3
NM_000834.5(GRIN2B):c.1456C>T (p.His486Tyr) rs2136479935
NM_000834.5(GRIN2B):c.1858G>A (p.Val620Met) rs796052571
NM_000834.5(GRIN2B):c.1946A>G (p.Asn649Ser) rs879253945
NM_000834.5(GRIN2B):c.1955C>G (p.Ala652Gly) rs879253912
NM_000834.5(GRIN2B):c.1970A>G (p.Glu657Gly) rs876661041
NM_000834.5(GRIN2B):c.2002G>T (p.Asp668Tyr) rs876661151
NM_000834.5(GRIN2B):c.2084T>G (p.Ile695Ser) rs876661219
NM_000834.5(GRIN2B):c.2201C>T (p.Ala734Val) rs876661064
NM_000834.5(GRIN2B):c.2251A>C (p.Ile751Leu) rs879254013
NM_000834.5(GRIN2B):c.2450A>G (p.Asn817Ser) rs1555103159
NM_000834.5(GRIN2B):c.2452A>C (p.Met818Leu) rs876661076
NM_000834.5(GRIN2B):c.2455G>T (p.Ala819Ser) rs1948652117
NM_000834.5(GRIN2B):c.2486dup (p.Met829fs) rs1591609065
NM_000834.5(GRIN2B):c.2589del (p.Ile864fs) rs796052578
NM_000834.5(GRIN2B):c.2926_2928del (p.Lys976del) rs876661102
NM_000834.5(GRIN2B):c.3006_3009dup (p.Tyr1004fs) rs1057518520
NM_000834.5(GRIN2B):c.3332G>A (p.Arg1111His) rs876661167
NM_000834.5(GRIN2B):c.3915dup (p.Thr1306fs) rs1591605549
NM_000834.5(GRIN2B):c.4015_4016del (p.Met1339fs) rs1565453023
NM_000834.5(GRIN2B):c.99dup (p.Ser34fs) rs398122823

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