ClinVar Miner

List of variants studied for Neurodevelopmental disorder with language impairment and behavioral abnormalities by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001083619.3(GRIA2):c.1147C>T (p.Pro383Ser) rs758848836
NM_001083619.3(GRIA2):c.1199C>T (p.Thr400Ile) rs2530742133
NM_001083619.3(GRIA2):c.2420C>T (p.Ala807Val) rs2127004544
NM_001083619.3(GRIA2):c.778T>C (p.Phe260Leu)

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