ClinVar Miner

List of variants in gene GABRA1 studied for adolescent-onset epilepsy syndrome

Included ClinVar conditions (80):
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Gene type:
ClinVar version:
Total variants: 99
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HGVS dbSNP
NC_000005.10:g.162537506_162537507insTGTTTACTAAACAAAAAGAAAGAGC rs587777363
NM_000806.5(GABRA1):c.*1319A>G rs886060367
NM_000806.5(GABRA1):c.*1443A>G rs575959204
NM_000806.5(GABRA1):c.*1512G>A rs886060368
NM_000806.5(GABRA1):c.*1526A>G rs540638714
NM_000806.5(GABRA1):c.*1601T>G rs886060369
NM_000806.5(GABRA1):c.*1659A>G rs886060370
NM_000806.5(GABRA1):c.*1837C>G rs886060371
NM_000806.5(GABRA1):c.*1971T>C rs886060372
NM_000806.5(GABRA1):c.*213C>T rs886060362
NM_000806.5(GABRA1):c.*2279G>A rs575186628
NM_000806.5(GABRA1):c.*2334C>T rs886060373
NM_000806.5(GABRA1):c.*302A>G rs886060364
NM_000806.5(GABRA1):c.*413G>A rs886060365
NM_000806.5(GABRA1):c.*771C>T rs886060366
NM_000806.5(GABRA1):c.-10C>G rs376699435
NM_000806.5(GABRA1):c.-117_-112GACTCG[3] rs527890421
NM_000806.5(GABRA1):c.-195A>G rs886060359
NM_000806.5(GABRA1):c.-220T>C rs186477194
NM_000806.5(GABRA1):c.-247-5T>C rs766490931
NM_000806.5(GABRA1):c.-248+8C>A rs886060358
NM_000806.5(GABRA1):c.-405T>C rs181962869
NM_000806.5(GABRA1):c.-438del rs112361424
NM_000806.5(GABRA1):c.-439A>G rs886060357
NM_000806.5(GABRA1):c.-441A>G rs11576001
NM_000806.5(GABRA1):c.-442dup rs201310567
NM_000806.5(GABRA1):c.-448G>A rs11576000
NM_000806.5(GABRA1):c.-448G>C rs11576000
NM_000806.5(GABRA1):c.-449G>C rs190043578
NM_000806.5(GABRA1):c.-455G>A rs531705924
NM_000806.5(GABRA1):c.1004A>T (p.Asn335Ile)
NM_000806.5(GABRA1):c.1065G>A (p.Lys355=) rs1554087785
NM_000806.5(GABRA1):c.1070T>C (p.Val357Ala)
NM_000806.5(GABRA1):c.1104C>T (p.Tyr368=) rs771832995
NM_000806.5(GABRA1):c.1206C>T (p.Pro402=) rs541335259
NM_000806.5(GABRA1):c.1225C>T (p.Pro409Ser) rs139793542
NM_000806.5(GABRA1):c.1228A>G (p.Lys410Glu) rs1424659316
NM_000806.5(GABRA1):c.1284G>A (p.Pro428=) rs74873701
NM_000806.5(GABRA1):c.1290A>G (p.Leu430=) rs886060361
NM_000806.5(GABRA1):c.1332C>G (p.Asn444Lys) rs1554087843
NM_000806.5(GABRA1):c.1351G>A (p.Ala451Thr) rs1312439667
NM_000806.5(GABRA1):c.150A>G (p.Leu50=) rs1006797468
NM_000806.5(GABRA1):c.216C>T (p.Ile72=) rs200716712
NM_000806.5(GABRA1):c.335G>A (p.Arg112Gln) rs587777308
NM_000806.5(GABRA1):c.477-5T>C rs779231183
NM_000806.5(GABRA1):c.485T>G (p.Val162Gly) rs1554085822
NM_000806.5(GABRA1):c.48C>T (p.Leu16=) rs1554083720
NM_000806.5(GABRA1):c.576A>G (p.Ala192=) rs1319609279
NM_000806.5(GABRA1):c.637T>A (p.Ser213Thr)
NM_000806.5(GABRA1):c.640C>T (p.Arg214Cys) rs727503940
NM_000806.5(GABRA1):c.649C>A (p.Gln217Lys) rs1554086437
NM_000806.5(GABRA1):c.655G>A (p.Asp219Asn) rs587777364
NM_000806.5(GABRA1):c.74+9A>T rs41275339
NM_000806.5(GABRA1):c.756C>T (p.Tyr252=) rs775895535
NM_000806.5(GABRA1):c.799C>A (p.Leu267Ile) rs796052492
NM_000806.5(GABRA1):c.856+11A>G rs564871157
NM_000806.5(GABRA1):c.856+8C>T rs1554087151
NM_000806.5(GABRA1):c.857-8C>T rs752572964
NM_000806.5(GABRA1):c.85C>T (p.Pro29Ser) rs143815396
NM_000806.5(GABRA1):c.920T>C (p.Val307Ala)
NM_000806.5(GABRA1):c.932C>T (p.Thr311Ile)
NM_000806.5(GABRA1):c.94C>A (p.Gln32Lys) rs769743354
NM_000806.5(GABRA1):c.954C>T (p.Ala318=) rs551045474
NM_001127644.2(GABRA1):c.*1061T>C rs374002978
NM_001127644.2(GABRA1):c.*1381T>C rs187522588
NM_001127644.2(GABRA1):c.*1506A>C rs998754
NM_001127644.2(GABRA1):c.*1752G>T rs41303356
NM_001127644.2(GABRA1):c.*1821T>G rs10059108
NM_001127644.2(GABRA1):c.*1929T>C rs2290733
NM_001127644.2(GABRA1):c.*2523A>C rs567624810
NM_001127644.2(GABRA1):c.*304del rs547262225
NM_001127644.2(GABRA1):c.*398A>C rs374845401
NM_001127644.2(GABRA1):c.*401G>A rs541504060
NM_001127644.2(GABRA1):c.*470A>G rs2290732
NM_001127644.2(GABRA1):c.-142A>G rs12658835
NM_001127644.2(GABRA1):c.-31C>T rs4608967
NM_001127644.2(GABRA1):c.-4C>T rs375475234
NM_001127644.2(GABRA1):c.1020A>C (p.Arg340Ser) rs1561587910
NM_001127644.2(GABRA1):c.1059+15G>A rs2279020
NM_001127644.2(GABRA1):c.1108C>A (p.Pro370Thr) rs1424508480
NM_001127644.2(GABRA1):c.1155C>A (p.Gly385=) rs41308303
NM_001127644.2(GABRA1):c.1323G>A (p.Thr441=) rs138259457
NM_001127644.2(GABRA1):c.1350A>G (p.Lys450=) rs142385746
NM_001127644.2(GABRA1):c.156T>C (p.Gly52=) rs1129647
NM_001127644.2(GABRA1):c.255+12C>T rs144727170
NM_001127644.2(GABRA1):c.477-14A>G rs757378039
NM_001127644.2(GABRA1):c.498T>G (p.Cys166Trp) rs1437350481
NM_001127644.2(GABRA1):c.501G>A (p.Pro167=) rs200750234
NM_001127644.2(GABRA1):c.641G>A (p.Arg214His) rs886039373
NM_001127644.2(GABRA1):c.672A>G (p.Thr224=) rs372742479
NM_001127644.2(GABRA1):c.75C>T (p.Ser25=)
NM_001127644.2(GABRA1):c.787A>T (p.Met263Leu) rs1561584736
NM_001127644.2(GABRA1):c.80G>A (p.Gly27Glu) rs866861998
NM_001127644.2(GABRA1):c.831G>A (p.Glu277=) rs764666718
NM_001127644.2(GABRA1):c.857-5T>C rs543710675
NM_001127644.2(GABRA1):c.869_888del (p.Val290fs) rs1561587715
NM_001127644.2(GABRA1):c.965C>A (p.Ala322Asp) rs121434579
NM_001127644.2(GABRA1):c.96A>G (p.Gln32=) rs76224028
NM_001127644.2(GABRA1):c.975del (p.Ser326fs)

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