ClinVar Miner

List of variants reported as likely 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.1198-2del rs1212517874 0.00001
NM_007327.4(GRIN1):c.1113+2T>C
NM_007327.4(GRIN1):c.1340-1del
NM_007327.4(GRIN1):c.1447A>C (p.Lys483Gln)
NM_007327.4(GRIN1):c.1467+2T>G
NM_007327.4(GRIN1):c.1592A>G (p.Lys531Arg)
NM_007327.4(GRIN1):c.1643G>A (p.Arg548Gln) rs1554770044
NM_007327.4(GRIN1):c.1645A>C (p.Ser549Arg) rs1554770046
NM_007327.4(GRIN1):c.1667A>G (p.Gln556Arg) rs1833594325
NM_007327.4(GRIN1):c.1847A>G (p.Asn616Ser) rs1564363665
NM_007327.4(GRIN1):c.1850C>T (p.Ser617Phe) rs2131298649
NM_007327.4(GRIN1):c.1852G>C (p.Gly618Arg) rs1833614590
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.1898G>T (p.Gly633Val)
NM_007327.4(GRIN1):c.1904T>C (p.Val635Ala)
NM_007327.4(GRIN1):c.1913G>C (p.Gly638Ala) rs1393555703
NM_007327.4(GRIN1):c.1918G>C (p.Ala640Pro)
NM_007327.4(GRIN1):c.1921A>G (p.Met641Val) rs2131299136
NM_007327.4(GRIN1):c.1922T>C (p.Met641Thr) rs1588732344
NM_007327.4(GRIN1):c.1931T>C (p.Val644Ala)
NM_007327.4(GRIN1):c.1939T>C (p.Tyr647His) rs1833621750
NM_007327.4(GRIN1):c.1976G>A (p.Arg659Gln) rs2131299400
NM_007327.4(GRIN1):c.2013+2T>G
NM_007327.4(GRIN1):c.2171+1G>A
NM_007327.4(GRIN1):c.2231G>A (p.Cys744Tyr) rs1554770444
NM_007327.4(GRIN1):c.2377G>T (p.Val793Phe)
NM_007327.4(GRIN1):c.2380C>G (p.Arg794Gly) rs1423513108
NM_007327.4(GRIN1):c.2381G>A (p.Arg794Gln) rs781053477
NM_007327.4(GRIN1):c.2381G>C (p.Arg794Pro)
NM_007327.4(GRIN1):c.2417C>A (p.Ala806Glu) rs1554770589
NM_007327.4(GRIN1):c.2417C>T (p.Ala806Val) rs1554770589
NM_007327.4(GRIN1):c.2420C>T (p.Thr807Ile) rs1554770590
NM_007327.4(GRIN1):c.2444-2_2448del
NM_007327.4(GRIN1):c.2444G>A (p.Gly815Glu) rs1833698535
NM_007327.4(GRIN1):c.2446G>T (p.Val816Phe)
NM_007327.4(GRIN1):c.2452A>C (p.Met818Leu) rs1554770628
NM_007327.4(GRIN1):c.2453T>G (p.Met818Arg)
NM_007327.4(GRIN1):c.2500G>C (p.Glu834Gln) rs1588735834
NM_007327.4(GRIN1):c.2530C>T (p.Arg844Cys) rs1554770667
NM_007327.4(GRIN1):c.2815T>G (p.Ter939Gly)
NM_007327.4(GRIN1):c.352G>A (p.Val118Met) rs1588686286
NM_007327.4(GRIN1):c.421G>A (p.Val141Met) rs1293947350
NM_007327.4(GRIN1):c.448G>A (p.Val150Met) rs1187375556
NM_007327.4(GRIN1):c.679G>C (p.Asp227His)
NM_007327.4(GRIN1):c.969-1G>C

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