ClinVar Miner

List of variants in gene GABRG2 reported as likely benign for Dravet syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_000816.3(GABRG2):c.*1497C>T rs11956247
NM_000816.3(GABRG2):c.*1518A>G rs567153845
NM_000816.3(GABRG2):c.*1636T>C rs551794496
NM_000816.3(GABRG2):c.*1974G>A rs150875037
NM_000816.3(GABRG2):c.*2095C>G rs138297122
NM_000816.3(GABRG2):c.*261G>A rs148001179
NM_000816.3(GABRG2):c.*343A>G rs41275341
NM_000816.3(GABRG2):c.*385G>A rs185169107
NM_000816.3(GABRG2):c.*441T>C rs188825588
NM_000816.3(GABRG2):c.*794A>G rs73316347
NM_000816.3(GABRG2):c.*797G>T rs118064447
NM_000816.3(GABRG2):c.-154C>T rs3219203
NM_000816.3(GABRG2):c.1148G>A (p.Arg383His) rs528036202
NM_000816.3(GABRG2):c.354G>A (p.Ala118=) rs61735412
NM_000816.3(GABRG2):c.402C>G (p.Val134=) rs562384157
NM_000816.3(GABRG2):c.717A>G (p.Gln239=) rs78261481
NM_000816.3(GABRG2):c.768C>T (p.Ser256=) rs201672465

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