ClinVar Miner

List of variants in gene GABRB1 studied for Developmental and epileptic encephalopathy, 45

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000812.4(GABRB1):c.1108A>G (p.Ser370Gly) rs767031899 0.00002
NM_000812.4(GABRB1):c.1142C>T (p.Ser381Leu) rs539587921 0.00002
NM_000812.4(GABRB1):c.1214G>A (p.Arg405His) rs999920078 0.00001
NM_000812.4(GABRB1):c.74C>G (p.Ala25Gly) rs1725307754 0.00001
NM_000812.4(GABRB1):c.1243G>C (p.Gly415Arg) rs373654564
NM_000812.4(GABRB1):c.1399G>T (p.Val467Phe) rs1729280438
NM_000812.4(GABRB1):c.157C>T (p.Arg53Trp) rs1135401786
NM_000812.4(GABRB1):c.158G>T (p.Arg53Leu)
NM_000812.4(GABRB1):c.307C>T (p.Pro103Ser) rs775749394
NM_000812.4(GABRB1):c.554C>T (p.Thr185Ile)
NM_000812.4(GABRB1):c.618C>T (p.Ile206=) rs6286
NM_000812.4(GABRB1):c.629A>G (p.Gln210Arg) rs1728466964
NM_000812.4(GABRB1):c.737T>C (p.Phe246Ser) rs886039817
NM_000812.4(GABRB1):c.740T>C (p.Ile247Thr) rs1728474004
NM_000812.4(GABRB1):c.757C>T (p.Pro253Ser) rs2110051822
NM_000812.4(GABRB1):c.80+24_80+25del rs72416056
NM_000812.4(GABRB1):c.846A>G (p.Thr282=) rs6289
NM_000812.4(GABRB1):c.854C>A (p.Thr285Lys) rs1728584859
NM_000812.4(GABRB1):c.860C>T (p.Thr287Ile) rs886039818
NM_000812.4(GABRB1):c.898A>T (p.Ile300Phe) rs2475468418

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