ClinVar Miner

List of variants in gene GRIN2B reported as pathogenic for Inborn genetic diseases

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000834.5(GRIN2B):c.1382G>T (p.Cys461Phe) rs1949427787
NM_000834.5(GRIN2B):c.1916C>T (p.Ala639Val) rs797044930
NM_000834.5(GRIN2B):c.2011-32_2014del rs1948714266
NM_000834.5(GRIN2B):c.2249_2250dup (p.Ile751fs)
NM_000834.5(GRIN2B):c.2458G>A (p.Gly820Arg) rs1555103150
NM_000834.5(GRIN2B):c.2459G>C (p.Gly820Ala) rs797044849
NM_000834.5(GRIN2B):c.2607C>A (p.Tyr869Ter)
NM_000834.5(GRIN2B):c.99del (p.Ser34fs)

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