ClinVar Miner

List of variants studied for Neurodevelopmental disorder with language impairment and behavioral abnormalities

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 53
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001083619.3(GRIA2):c.2044-19C>T rs114192841 0.02316
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.967C>T (p.Arg323Ter) rs143505003 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.1155+2T>C rs368221889
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.1565C>G (p.Ser522Cys)
NM_001083619.3(GRIA2):c.1582C>A (p.Pro528Thr) rs1735294501
NM_001083619.3(GRIA2):c.1589A>T (p.Lys530Met) rs2126940142
NM_001083619.3(GRIA2):c.1589_1619dup (p.Asp540delinsGluValGlnThrArgSerValPheLeuSerTer) rs2530754055
NM_001083619.3(GRIA2):c.1667G>A (p.Gly556Glu) rs2530754438
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.1838C>T (p.Ser613Leu) rs1735304432
NM_001083619.3(GRIA2):c.1859G>A (p.Arg620His) rs2530775606
NM_001083619.3(GRIA2):c.1883T>C (p.Phe628Ser) rs2530775670
NM_001083619.3(GRIA2):c.1915G>T (p.Ala639Ser) rs1579377564
NM_001083619.3(GRIA2):c.1916C>G (p.Ala639Gly) rs2530775821
NM_001083619.3(GRIA2):c.1924G>C (p.Ala642Pro) rs2530775857
NM_001083619.3(GRIA2):c.1927G>A (p.Ala643Thr) rs2126951757
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.1939G>C (p.Val647Leu) rs765072736
NM_001083619.3(GRIA2):c.1940T>C (p.Val647Ala) rs1579377586
NM_001083619.3(GRIA2):c.1958_1960delinsTCTACAGCAC (p.Pro653fs) rs2126951829
NM_001083619.3(GRIA2):c.208A>C (p.Ser70Arg)
NM_001083619.3(GRIA2):c.2188A>T (p.Asn730Tyr) rs2530853195
NM_001083619.3(GRIA2):c.2251A>G (p.Lys751Glu) rs1736569883
NM_001083619.3(GRIA2):c.2255G>T (p.Gly752Val) rs2126998891
NM_001083619.3(GRIA2):c.2263dup (p.Ile755fs) rs2530853550
NM_001083619.3(GRIA2):c.2363G>T (p.Trp788Leu) rs2127000861
NM_001083619.3(GRIA2):c.2375G>A (p.Gly792Glu) rs2127000875
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.2491G>C (p.Ala831Pro) rs2530865612
NM_001083619.3(GRIA2):c.258del (p.Val85_Tyr86insTer) rs2126866545
NM_001083619.3(GRIA2):c.399A>T (p.Lys133Asn)
NM_001083619.3(GRIA2):c.506del (p.Ala169fs) rs2126885680
NM_001083619.3(GRIA2):c.518G>T (p.Trp173Leu)
NM_001083619.3(GRIA2):c.699C>A (p.Tyr233Ter) rs1734386587
NM_001083619.3(GRIA2):c.739C>G (p.Leu247Val) rs1734562238
NM_001083619.3(GRIA2):c.778T>C (p.Phe260Leu)
NM_001083619.3(GRIA2):c.830G>A (p.Trp277Ter) rs2530690874
NM_001083619.3(GRIA2):c.882+5G>C rs2530691393
NM_001083619.3(GRIA2):c.905A>G (p.Asp302Gly) rs1735116193

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.