ClinVar Miner

List of variants in gene GRIA2 reported as uncertain significance for Neurodevelopmental disorder with language impairment and behavioral abnormalities

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001083619.3(GRIA2):c.1150C>T (p.Arg384Trp) rs766785821 0.00001
NM_001083619.3(GRIA2):c.1760A>C (p.Glu587Ala) rs1735300357 0.00001
NM_001083619.3(GRIA2):c.1025T>C (p.Val342Ala) rs771056190
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.1396G>T (p.Val466Phe) rs2530750600
NM_001083619.3(GRIA2):c.140G>A (p.Gly47Glu) rs2126669313
NM_001083619.3(GRIA2):c.14T>C (p.Met5Thr) rs1368880258
NM_001083619.3(GRIA2):c.1523A>T (p.Glu508Val) rs2530753809
NM_001083619.3(GRIA2):c.1831G>A (p.Asp611Asn) rs1553956958
NM_001083619.3(GRIA2):c.1838C>T (p.Ser613Leu) rs1735304432
NM_001083619.3(GRIA2):c.1924G>C (p.Ala642Pro) rs2530775857
NM_001083619.3(GRIA2):c.208A>C (p.Ser70Arg)
NM_001083619.3(GRIA2):c.2491G>C (p.Ala831Pro) rs2530865612
NM_001083619.3(GRIA2):c.399A>T (p.Lys133Asn)
NM_001083619.3(GRIA2):c.518G>T (p.Trp173Leu)
NM_001083619.3(GRIA2):c.739C>G (p.Leu247Val) rs1734562238
NM_001083619.3(GRIA2):c.778T>C (p.Phe260Leu)
NM_001083619.3(GRIA2):c.882+5G>C rs2530691393

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