ClinVar Miner

List of variants reported as pathogenic for Intellectual disability, autosomal dominant 8

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_007327.4(GRIN1):c.1069C>T (p.Gln357Ter)
NM_007327.4(GRIN1):c.1078A>T (p.Lys360Ter)
NM_007327.4(GRIN1):c.118C>T (p.Gln40Ter)
NM_007327.4(GRIN1):c.1214A>T (p.Gln405Leu)
NM_007327.4(GRIN1):c.1324_1325dup (p.Ser443fs) rs2131291544
NM_007327.4(GRIN1):c.1342del (p.Arg448fs) rs1588727276
NM_007327.4(GRIN1):c.1643G>A (p.Arg548Gln) rs1554770044
NM_007327.4(GRIN1):c.1656C>A (p.Asp552Glu) rs1554770054
NM_007327.4(GRIN1):c.1656C>G (p.Asp552Glu) rs1554770054
NM_007327.4(GRIN1):c.1665G>T (p.Met555Ile)
NM_007327.4(GRIN1):c.1668G>T (p.Gln556His) rs2131297434
NM_007327.4(GRIN1):c.1679_1681dup (p.Ser560dup) rs1554770064
NM_007327.4(GRIN1):c.1687T>G (p.Trp563Gly)
NM_007327.4(GRIN1):c.1736del (p.Leu579fs)
NM_007327.4(GRIN1):c.1798_1805del (p.Ala600fs)
NM_007327.4(GRIN1):c.1832G>T (p.Trp611Leu) rs2131298613
NM_007327.4(GRIN1):c.1853G>T (p.Gly618Val) rs1833614725
NM_007327.4(GRIN1):c.1854_1859dup (p.Ile619_Gly620dup) rs1554770185
NM_007327.4(GRIN1):c.1858G>A (p.Gly620Arg) rs797045047
NM_007327.4(GRIN1):c.1858G>C (p.Gly620Arg) rs797045047
NM_007327.4(GRIN1):c.1913G>C (p.Gly638Ala) rs1393555703
NM_007327.4(GRIN1):c.1921A>G (p.Met641Val) rs2131299136
NM_007327.4(GRIN1):c.1921A>T (p.Met641Leu) rs2131299136
NM_007327.4(GRIN1):c.1923G>A (p.Met641Ile) rs1060500046
NM_007327.4(GRIN1):c.1933G>T (p.Ala645Ser) rs1833621434
NM_007327.4(GRIN1):c.1950C>A (p.Asn650Lys) rs771610568
NM_007327.4(GRIN1):c.1950C>G (p.Asn650Lys) rs771610568
NM_007327.4(GRIN1):c.1961T>G (p.Phe654Cys) rs1554770262
NM_007327.4(GRIN1):c.1975C>T (p.Arg659Trp) rs1064797355
NM_007327.4(GRIN1):c.1984G>A (p.Glu662Lys) rs387906635
NM_007327.4(GRIN1):c.2030_2034del (p.Asp677fs)
NM_007327.4(GRIN1):c.2039_2042del (p.Ile680fs)
NM_007327.4(GRIN1):c.2063C>A (p.Ser688Tyr) rs1833635820
NM_007327.4(GRIN1):c.2365G>A (p.Asp789Asn)
NM_007327.4(GRIN1):c.237C>A (p.Cys79Ter) rs200529044
NM_007327.4(GRIN1):c.2381G>A (p.Arg794Gln) rs781053477
NM_007327.4(GRIN1):c.2414C>T (p.Pro805Leu) rs1588735247
NM_007327.4(GRIN1):c.2443G>A (p.Gly815Arg) rs797044925
NM_007327.4(GRIN1):c.2443G>C (p.Gly815Arg) rs797044925
NM_007327.4(GRIN1):c.2449T>C (p.Phe817Leu) rs1554770624
NM_007327.4(GRIN1):c.2451C>A (p.Phe817Leu)
NM_007327.4(GRIN1):c.2479G>A (p.Gly827Arg) rs1451230055
NM_007327.4(GRIN1):c.2530C>T (p.Arg844Cys) rs1554770667
NM_007327.4(GRIN1):c.2531G>T (p.Arg844Leu) rs1564365418
NM_007327.4(GRIN1):c.268del (p.Ile90fs)
NM_007327.4(GRIN1):c.529C>T (p.Gln177Ter) rs2131217643

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