ClinVar Miner

List of variants in gene GRIN1 reported as pathogenic for Inborn genetic diseases

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Total variants: 6
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HGVS dbSNP gnomAD frequency
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.1958C>G (p.Ala653Gly) rs1554770258
NM_007327.4(GRIN1):c.2414del (p.Pro805fs) rs766786160
NM_007327.4(GRIN1):c.2443G>A (p.Gly815Arg) rs797044925
NM_007327.4(GRIN1):c.2530C>T (p.Arg844Cys) rs1554770667

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