ClinVar Miner

List of variants in gene GABRA1 studied for EIG

Included ClinVar conditions (4):
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Total variants: 42
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HGVS dbSNP
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.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.756C>T (p.Tyr252=) rs775895535
NM_000806.5(GABRA1):c.799C>A (p.Leu267Ile) rs796052492
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.1020A>C (p.Arg340Ser) rs1561587910
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.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.75C>T (p.Ser25=)
NM_001127644.2(GABRA1):c.787A>T (p.Met263Leu) rs1561584736
NM_001127644.2(GABRA1):c.831G>A (p.Glu277=) rs764666718
NM_001127644.2(GABRA1):c.869_888del (p.Val290fs) rs1561587715
NM_001127644.2(GABRA1):c.96A>G (p.Gln32=) rs76224028

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