ClinVar Miner

List of variants in gene CSTB studied for adolescent-onset epilepsy syndrome

Included ClinVar conditions (80):
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Total variants: 49
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HGVS dbSNP
CSTB, 2-BP DEL, 2404TC
NC_000021.8:g.(?_45194063)_(45196170_?)dup
NM_000100.3(CSTB):c.*227A>G rs886057112
NM_000100.3(CSTB):c.*301G>A rs886057111
NM_000100.3(CSTB):c.*325A>G rs28691645
NM_000100.3(CSTB):c.*355C>G rs143062585
NM_000100.3(CSTB):c.*435G>A rs149039598
NM_000100.3(CSTB):c.*69A>G rs142767585
NM_000100.3(CSTB):c.*74T>C rs6385
NM_000100.3(CSTB):c.-42C>T rs776181852
NM_000100.3(CSTB):c.-43C>G rs886057113
NM_000100.3(CSTB):c.-54C>T rs59649299
NM_000100.3(CSTB):c.-55G>A rs533879406
NM_000100.3(CSTB):c.10G>C (p.Gly4Arg) rs74315443
NM_000100.3(CSTB):c.10G>T (p.Gly4Trp) rs74315443
NM_000100.3(CSTB):c.121G>A (p.Val41Met) rs143153487
NM_000100.3(CSTB):c.125C>A (p.Ser42Ter) rs386833439
NM_000100.3(CSTB):c.12G>A (p.Gly4=) rs1555888494
NM_000100.3(CSTB):c.136C>T (p.Gln46Ter) rs545986367
NM_000100.3(CSTB):c.149G>A (p.Gly50Glu) rs312262708
NM_000100.3(CSTB):c.158A>G (p.Tyr53Cys)
NM_000100.3(CSTB):c.15G>T (p.Ala5=) rs4533
NM_000100.3(CSTB):c.168+2_168+19del rs312262707
NM_000100.3(CSTB):c.168+2_168+21delinsAA rs864309482
NM_000100.3(CSTB):c.168G>A (p.Lys56=) rs386833440
NM_000100.3(CSTB):c.169-14C>T rs757593576
NM_000100.3(CSTB):c.169-2A>G rs386833441
NM_000100.3(CSTB):c.169G>A (p.Val57Met) rs796052394
NM_000100.3(CSTB):c.175G>A (p.Val59Ile)
NM_000100.3(CSTB):c.191T>G (p.Phe64Cys) rs1569005540
NM_000100.3(CSTB):c.193G>A (p.Val65Ile) rs570768038
NM_000100.3(CSTB):c.1_2insAT (p.Met1fs) rs1044894207
NM_000100.3(CSTB):c.200_203dup (p.Val69fs)
NM_000100.3(CSTB):c.202C>T (p.Arg68Ter) rs74315442
NM_000100.3(CSTB):c.203G>C (p.Arg68Pro) rs757707761
NM_000100.3(CSTB):c.212A>C (p.Gln71Pro) rs121909346
NM_000100.3(CSTB):c.214_215TC[2] (p.Leu73fs) rs796943858
NM_000100.3(CSTB):c.221C>T (p.Pro74Leu)
NM_000100.3(CSTB):c.27G>C (p.Thr9=) rs945357152
NM_000100.3(CSTB):c.28C>G (p.Gln10Glu) rs1399970116
NM_000100.3(CSTB):c.290A>G (p.Tyr97Cys) rs1186810947
NM_000100.3(CSTB):c.29A>C (p.Gln10Pro) rs569851503
NM_000100.3(CSTB):c.45G>A (p.Glu15=) rs1057521317
NM_000100.3(CSTB):c.54C>T (p.His18=) rs557717323
NM_000100.3(CSTB):c.55A>G (p.Ile19Val) rs1349028244
NM_000100.3(CSTB):c.64C>T (p.Gln22Ter) rs1569006250
NM_000100.3(CSTB):c.66G>A (p.Gln22=) rs386833443
NM_000100.3(CSTB):c.67-1G>C rs147484110
NM_000100.3(CSTB):c.67-3T>C rs6383

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