ClinVar Miner

List of variants in gene GABRA1 reported as likely pathogenic for obsolete Dravet syndrome

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001127644.2(GABRA1):c.440G>A (p.Arg147Gln) rs1376907797 0.00001
NM_001127644.2(GABRA1):c.1207G>C (p.Glu403Gln) rs775157869
NM_001127644.2(GABRA1):c.269A>T (p.Asp90Val) rs2532239106
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) rs2532261903
NM_001127644.2(GABRA1):c.763A>T (p.Ile255Phe) rs1755061747
NM_001127644.2(GABRA1):c.785_786dup (p.Met263Ter) rs2532280401
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.839C>T (p.Pro280Leu) rs2532280628
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.922G>A (p.Ala308Thr) rs1755334003
NM_001127644.2(GABRA1):c.953C>T (p.Ala318Val)

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