ClinVar Miner

List of variants in gene GABRA1 studied for developmental and epileptic encephalopathy

Included ClinVar conditions (222):
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Gene type:
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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_001127644.2(GABRA1):c.1059+15G>A rs2279020 0.62825
NM_001127644.2(GABRA1):c.156T>C (p.Gly52=) rs1129647 0.23538
NM_001127643.2(GABRA1):c.-248+1G>T rs191560793 0.00071
NM_001127644.2(GABRA1):c.-258T>C rs183280626 0.00026
NM_001127644.2(GABRA1):c.85C>T (p.Pro29Ser) rs143815396 0.00013
NM_001127644.2(GABRA1):c.1130C>T (p.Pro377Leu) rs751571034 0.00002
NM_001127644.2(GABRA1):c.1156T>G (p.Leu386Val) rs771316858 0.00001
NM_001127644.2(GABRA1):c.611G>A (p.Arg204His) rs777320447 0.00001
NM_001127644.2(GABRA1):c.1015A>G (p.Lys339Glu) rs1755339912
NM_001127644.2(GABRA1):c.1032G>A (p.Trp344Ter) rs2113465037
NM_001127644.2(GABRA1):c.1108C>T (p.Pro370Ser) rs1424508480
NM_001127644.2(GABRA1):c.1200del (p.Lys401fs) rs879253748
NM_001127644.2(GABRA1):c.1207G>C (p.Glu403Gln) rs775157869
NM_001127644.2(GABRA1):c.1235C>A (p.Thr412Asn)
NM_001127644.2(GABRA1):c.1268C>T (p.Ser423Leu) rs1581221893
NM_001127644.2(GABRA1):c.1350A>T (p.Lys450Asn) rs142385746
NM_001127644.2(GABRA1):c.187+8G>A
NM_001127644.2(GABRA1):c.197C>A (p.Thr66Asn) rs2113354062
NM_001127644.2(GABRA1):c.269A>T (p.Asp90Val)
NM_001127644.2(GABRA1):c.328G>T (p.Val110Phe)
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) rs587777308
NM_001127644.2(GABRA1):c.406G>T (p.Ala136Ser) rs1754201918
NM_001127644.2(GABRA1):c.440G>A (p.Arg147Gln) rs1376907797
NM_001127644.2(GABRA1):c.485T>G (p.Val162Gly) rs1554085822
NM_001127644.2(GABRA1):c.586T>C (p.Tyr196His) rs2113414428
NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys) rs727503940
NM_001127644.2(GABRA1):c.641G>A (p.Arg214His) rs886039373
NM_001127644.2(GABRA1):c.643C>A (p.Leu215Ile) rs1554086436
NM_001127644.2(GABRA1):c.647A>T (p.Asn216Ile)
NM_001127644.2(GABRA1):c.71G>C (p.Arg24Thr)
NM_001127644.2(GABRA1):c.730T>C (p.Phe244Leu)
NM_001127644.2(GABRA1):c.751G>A (p.Gly251Ser) rs587777307
NM_001127644.2(GABRA1):c.763A>T (p.Ile255Phe) rs1755061747
NM_001127644.2(GABRA1):c.781T>C (p.Cys261Arg) rs2113446513
NM_001127644.2(GABRA1):c.785_786dup (p.Met263Ter)
NM_001127644.2(GABRA1):c.787A>G (p.Met263Val) rs1561584736
NM_001127644.2(GABRA1):c.789G>A (p.Met263Ile) rs1060499553
NM_001127644.2(GABRA1):c.799C>A (p.Leu267Ile) rs796052492
NM_001127644.2(GABRA1):c.809T>C (p.Val270Ala) rs1755063375
NM_001127644.2(GABRA1):c.80G>A (p.Gly27Glu) rs866861998
NM_001127644.2(GABRA1):c.839C>T (p.Pro280Leu)
NM_001127644.2(GABRA1):c.842C>A (p.Ala281Glu)
NM_001127644.2(GABRA1):c.859G>T (p.Val287Leu) rs796052493
NM_001127644.2(GABRA1):c.869_888del (p.Val290fs) rs1561587715
NM_001127644.2(GABRA1):c.884C>T (p.Thr295Ile) rs796052496
NM_001127644.2(GABRA1):c.902G>A (p.Arg301Lys) rs863225292
NM_001127644.2(GABRA1):c.917A>C (p.Lys306Thr) rs587777309
NM_001127644.2(GABRA1):c.940G>A (p.Asp314Asn) rs1064795283
NM_001127644.2(GABRA1):c.94C>T (p.Gln32Ter) rs769743354
NM_001127644.2(GABRA1):c.955G>A (p.Val319Met) rs2113464702
NM_001127644.2(GABRA1):c.995C>T (p.Ala332Val) rs1755338662

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