ClinVar Miner

List of variants in gene GRIN1 reported as likely pathogenic by Invitae

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Gene type:
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Total variants: 15
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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.1467+2T>G
NM_007327.4(GRIN1):c.1847A>G (p.Asn616Ser) rs1564363665
NM_007327.4(GRIN1):c.1931T>C (p.Val644Ala)
NM_007327.4(GRIN1):c.2013+2T>G
NM_007327.4(GRIN1):c.2231G>A (p.Cys744Tyr) rs1554770444
NM_007327.4(GRIN1):c.2380C>G (p.Arg794Gly) rs1423513108
NM_007327.4(GRIN1):c.2381G>C (p.Arg794Pro)
NM_007327.4(GRIN1):c.2420C>T (p.Thr807Ile) rs1554770590
NM_007327.4(GRIN1):c.2444-2_2448del
NM_007327.4(GRIN1):c.2452A>C (p.Met818Leu) rs1554770628
NM_007327.4(GRIN1):c.2453T>G (p.Met818Arg)
NM_007327.4(GRIN1):c.969-1G>C

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