ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007327.4(GRIN1):c.1069C>T (p.Gln357Ter) rs1833357461 0.00001
NM_007327.4(GRIN1):c.1078A>T (p.Lys360Ter) rs2538608656
NM_007327.4(GRIN1):c.118C>T (p.Gln40Ter) rs2538507902
NM_007327.4(GRIN1):c.1214A>T (p.Gln405Leu) rs2538623861
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) rs2538636884
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) rs2538637096
NM_007327.4(GRIN1):c.1736del (p.Leu579fs) rs2538637344
NM_007327.4(GRIN1):c.1798_1805del (p.Ala600fs) rs2538639267
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.1922T>A (p.Met641Lys)
NM_007327.4(GRIN1):c.1923G>A (p.Met641Ile) rs1060500046
NM_007327.4(GRIN1):c.1927A>G (p.Ile643Val) rs1554770243
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) rs2538642665
NM_007327.4(GRIN1):c.2039_2042del (p.Ile680fs) rs1564364189
NM_007327.4(GRIN1):c.2063C>A (p.Ser688Tyr) rs1833635820
NM_007327.4(GRIN1):c.2209G>A (p.Glu737Lys)
NM_007327.4(GRIN1):c.2365G>A (p.Asp789Asn) rs2538647858
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) rs2538649281
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) rs1161768105
NM_007327.4(GRIN1):c.529C>T (p.Gln177Ter) rs2131217643
NM_007327.4(GRIN1):c.733dup (p.Tyr245fs)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.