ClinVar Miner

List of variants in gene GRIN1 reported as pathogenic

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Gene type:
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Total variants: 29
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HGVS dbSNP
NM_007327.4(GRIN1):c.1342del (p.Arg448fs) rs1588727276
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.1656C>A (p.Asp552Glu) rs1554770054
NM_007327.4(GRIN1):c.1656C>G (p.Asp552Glu) rs1554770054
NM_007327.4(GRIN1):c.1666C>T (p.Gln556Ter) rs1554770057
NM_007327.4(GRIN1):c.1670C>G (p.Pro557Arg) rs878853143
NM_007327.4(GRIN1):c.1679_1681dup (p.Ser560dup) rs1554770064
NM_007327.4(GRIN1):c.1853G>T (p.Gly618Val)
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.1921A>G (p.Met641Val)
NM_007327.4(GRIN1):c.1923G>A (p.Met641Ile) rs1060500046
NM_007327.4(GRIN1):c.1930G>A (p.Val644Met) rs1554770248
NM_007327.4(GRIN1):c.1933G>T (p.Ala645Ser)
NM_007327.4(GRIN1):c.1950C>G (p.Asn650Lys) rs771610568
NM_007327.4(GRIN1):c.1955C>T (p.Ala652Val) rs1064797027
NM_007327.4(GRIN1):c.1958C>G (p.Ala653Gly) rs1554770258
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.2443G>A (p.Gly815Arg) rs797044925
NM_007327.4(GRIN1):c.2449T>C (p.Phe817Leu) rs1554770624
NM_007327.4(GRIN1):c.2479G>A (p.Gly827Arg) rs1451230055
NM_007327.4(GRIN1):c.2504T>C (p.Ile835Thr) rs1554770659
NM_007327.4(GRIN1):c.2530C>T (p.Arg844Cys) rs1554770667
NM_007327.4(GRIN1):c.649C>T (p.Arg217Trp) rs200777850
NM_007327.4(GRIN1):c.679G>C (p.Asp227His)

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