ClinVar Miner

List of variants in gene GABRA6 reported as likely benign for electroclinical syndrome

Included ClinVar conditions (101):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000811.3(GABRA6):c.710A>G (p.Gln237Arg) rs76773579 0.00226
NM_000811.3(GABRA6):c.1142T>C (p.Ile381Thr) rs141319994 0.00051
NM_000811.3(GABRA6):c.339G>A (p.Thr113=) rs113239794 0.00019
NM_000811.3(GABRA6):c.1156G>A (p.Glu386Lys) rs773585316 0.00007
NM_000811.3(GABRA6):c.1053A>C (p.Lys351Asn) rs750458393 0.00001
NM_000811.3(GABRA6):c.507T>C (p.Ala169=) rs1400096249
NM_000811.3(GABRA6):c.663A>G (p.Lys221=) rs200968260

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