ClinVar Miner

List of variants reported as likely pathogenic for Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 by Invitae

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000834.5(GRIN2B):c.1280G>T (p.Gly427Val) rs1591643530
NM_000834.5(GRIN2B):c.1549G>A (p.Glu517Lys)
NM_000834.5(GRIN2B):c.1607T>C (p.Val536Ala)
NM_000834.5(GRIN2B):c.1618C>T (p.Arg540Cys)
NM_000834.5(GRIN2B):c.1627G>A (p.Gly543Arg)
NM_000834.5(GRIN2B):c.1831G>C (p.Gly611Arg) rs2136470509
NM_000834.5(GRIN2B):c.1847A>G (p.Asn616Ser) rs1949321492
NM_000834.5(GRIN2B):c.2086C>T (p.Arg696Cys)
NM_000834.5(GRIN2B):c.2116A>G (p.Met706Val) rs1057518988
NM_000834.5(GRIN2B):c.2125T>G (p.Phe709Val) rs1591612279
NM_000834.5(GRIN2B):c.2453T>A (p.Met818Lys)
NM_000834.5(GRIN2B):c.2456C>T (p.Ala819Val)
NM_000834.5(GRIN2B):c.3944C>T (p.Ala1315Val) rs1591605514
NM_000834.5(GRIN2B):c.412-2A>G rs2136629609

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