ClinVar Miner

List of variants in gene GRIN2B reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000834.5(GRIN2B):c.1016del (p.Leu339fs) rs1950069601
NM_000834.5(GRIN2B):c.1177C>T (p.Arg393Ter) rs1555112396
NM_000834.5(GRIN2B):c.1963A>G (p.Ile655Val) rs1949320223
NM_000834.5(GRIN2B):c.2238C>G (p.Cys746Trp) rs941763104
NM_000834.5(GRIN2B):c.2515G>A (p.Glu839Lys) rs1085307547
NM_000834.5(GRIN2B):c.2674_2698dup (p.Arg900fs) rs2136406273
NM_000834.5(GRIN2B):c.2750C>T (p.Ser917Leu) rs1555102552

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