ClinVar Miner

List of variants in gene GRIN2B reported as pathogenic for Mental retardation, autosomal dominant 6

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Total variants: 12
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HGVS dbSNP
NM_000834.3(GRIN2B):c.2044C>T (p.Arg682Cys) rs387906636
NM_000834.3(GRIN2B):c.2172-2A>G rs398122824
NM_000834.3(GRIN2B):c.2360-2A>G rs1057519612
NM_000834.4(GRIN2B):c.1238A>G (p.Glu413Gly) rs527236034
NM_000834.4(GRIN2B):c.1367G>A (p.Cys456Tyr) rs397514555
NM_000834.4(GRIN2B):c.1619G>A (p.Arg540His) rs672601378
NM_000834.4(GRIN2B):c.1658C>T (p.Pro553Leu) rs397514556
NM_000834.4(GRIN2B):c.1677G>A (p.Trp559Ter) rs398122825
NM_000834.4(GRIN2B):c.2252T>C (p.Ile751Thr) rs876661055
NM_000834.4(GRIN2B):c.411+1G>A rs1057519611
NM_000834.4(GRIN2B):c.803_804del (p.Thr268Serfs) rs1060499526
NM_000834.4(GRIN2B):c.99dup (p.Ser34Glnfs) rs398122823

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