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: 16
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HGVS dbSNP
GRCh38/hg38 12p13.1(chr12:13634987-13726033)x3
NM_000834.3(GRIN2B):c.1858G>A (p.Val620Met) rs796052571
NM_000834.3(GRIN2B):c.2002G>T (p.Asp668Tyr) rs876661151
NM_000834.3(GRIN2B):c.2201C>T (p.Ala734Val) rs876661064
NM_000834.3(GRIN2B):c.2341C>G (p.Leu781Val) rs1064796752
NM_000834.3(GRIN2B):c.2452A>C (p.Met818Leu) rs876661076
NM_000834.3(GRIN2B):c.2515G>A (p.Glu839Lys) rs1085307547
NM_000834.3(GRIN2B):c.2589delC (p.Ile864Serfs) rs796052578
NM_000834.3(GRIN2B):c.2926_2928delAAG (p.Lys976del) rs876661102
NM_000834.3(GRIN2B):c.3006_3009dupGCTC (p.Tyr1004Alafs) rs1057518520
NM_000834.4(GRIN2B):c.1955C>G (p.Ala652Gly) rs879253912
NM_000834.4(GRIN2B):c.1970A>G (p.Glu657Gly) rs876661041
NM_000834.4(GRIN2B):c.2084T>G (p.Ile695Ser) rs876661219
NM_000834.4(GRIN2B):c.2251A>C (p.Ile751Leu) rs879254013
NM_000834.4(GRIN2B):c.2450A>G (p.Asn817Ser) rs1555103159
NM_000834.4(GRIN2B):c.99dup (p.Ser34Glnfs) rs398122823

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