ClinVar Miner

List of variants reported as likely pathogenic for Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

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Total variants: 6
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HGVS dbSNP
NM_007327.4(GRIN1):c.1847A>G (p.Asn616Ser) rs1564363665
NM_007327.4(GRIN1):c.1858G>C (p.Gly620Arg) rs797045047
NM_007327.4(GRIN1):c.2231G>A (p.Cys744Tyr) rs1554770444
NM_007327.4(GRIN1):c.2381G>A (p.Arg794Gln) rs781053477
NM_007327.4(GRIN1):c.2417C>A (p.Ala806Glu) rs1554770589
NM_007327.4(GRIN1):c.679G>C (p.Asp227His) rs869312865

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