ClinVar Miner

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

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001083619.3(GRIA2):c.1582C>A (p.Pro528Thr) rs1735294501
NM_001083619.3(GRIA2):c.1589_1619dup (p.Asp540delinsGluValGlnThrArgSerValPheLeuSerTer) rs2530754055
NM_001083619.3(GRIA2):c.1825G>A (p.Gly609Arg) rs1735303754
NM_001083619.3(GRIA2):c.1831G>A (p.Asp611Asn) rs1553956958
NM_001083619.3(GRIA2):c.1915G>T (p.Ala639Ser) rs1579377564
NM_001083619.3(GRIA2):c.1927G>A (p.Ala643Thr) rs2126951757
NM_001083619.3(GRIA2):c.1939G>C (p.Val647Leu) rs765072736
NM_001083619.3(GRIA2):c.1940T>C (p.Val647Ala) rs1579377586
NM_001083619.3(GRIA2):c.2263dup (p.Ile755fs) rs2530853550
NM_001083619.3(GRIA2):c.2375G>A (p.Gly792Glu) rs2127000875
NM_001083619.3(GRIA2):c.258del (p.Val85_Tyr86insTer) rs2126866545
NM_001083619.3(GRIA2):c.506del (p.Ala169fs) rs2126885680
NM_001083619.3(GRIA2):c.699C>A (p.Tyr233Ter) rs1734386587
NM_001083619.3(GRIA2):c.905A>G (p.Asp302Gly) rs1735116193

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