ClinVar Miner

List of variants reported as likely pathogenic for Neurodevelopmental disorder with language impairment and behavioral abnormalities by SIB Swiss Institute of Bioinformatics

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001083619.3(GRIA2):c.967C>T (p.Arg323Ter) rs143505003 0.00001
NM_001083619.3(GRIA2):c.1582C>A (p.Pro528Thr) rs1735294501
NM_001083619.3(GRIA2):c.1819C>G (p.Gln607Glu) rs2126940512
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.1932C>A (p.Phe644Leu) rs761753966
NM_001083619.3(GRIA2):c.1937C>A (p.Thr646Asn) rs2126951773
NM_001083619.3(GRIA2):c.2363G>T (p.Trp788Leu) rs2127000861
NM_001083619.3(GRIA2):c.2375G>T (p.Gly792Val) rs2127000875
NM_001083619.3(GRIA2):c.2420C>T (p.Ala807Val) rs2127004544
NM_001083619.3(GRIA2):c.2435A>G (p.Asn812Ser) rs2127004559
NM_001083619.3(GRIA2):c.905A>G (p.Asp302Gly) rs1735116193

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