ClinVar Miner

List of variants in gene GABRA1 reported as uncertain significance for EIG

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_000806.5(GABRA1):c.1004A>T (p.Asn335Ile)
NM_000806.5(GABRA1):c.1070T>C (p.Val357Ala)
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.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.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_001127644.2(GABRA1):c.1020A>C (p.Arg340Ser) rs1561587910
NM_001127644.2(GABRA1):c.1108C>A (p.Pro370Thr) rs1424508480
NM_001127644.2(GABRA1):c.498T>G (p.Cys166Trp) rs1437350481
NM_001127644.2(GABRA1):c.75C>T (p.Ser25=)
NM_001127644.2(GABRA1):c.787A>T (p.Met263Leu) rs1561584736

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