ClinVar Miner

List of variants in gene GABRA1 reported as uncertain significance for adolescent-onset epilepsy syndrome

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 67
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HGVS dbSNP
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.-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.1070T>C (p.Val357Ala)
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.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.485T>G (p.Val162Gly) rs1554085822
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.799C>A (p.Leu267Ile) rs796052492
NM_000806.5(GABRA1):c.856+11A>G rs564871157
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.*1752G>T rs41303356
NM_001127644.2(GABRA1):c.*1821T>G rs10059108
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.-4C>T rs375475234
NM_001127644.2(GABRA1):c.1020A>C (p.Arg340Ser) rs1561587910
NM_001127644.2(GABRA1):c.1108C>A (p.Pro370Thr) rs1424508480
NM_001127644.2(GABRA1):c.1350A>G (p.Lys450=) rs142385746
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.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.857-5T>C rs543710675

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