ClinVar Miner

List of variants in gene CSTB reported as uncertain significance for adolescent-onset epilepsy syndrome

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP
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.*355C>G rs143062585
NM_000100.3(CSTB):c.*435G>A rs149039598
NM_000100.3(CSTB):c.*69A>G rs142767585
NM_000100.3(CSTB):c.-42C>T rs776181852
NM_000100.3(CSTB):c.-43C>G rs886057113
NM_000100.3(CSTB):c.-55G>A rs533879406
NM_000100.3(CSTB):c.158A>G (p.Tyr53Cys)
NM_000100.3(CSTB):c.169-14C>T rs757593576
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.203G>C (p.Arg68Pro) rs757707761
NM_000100.3(CSTB):c.221C>T (p.Pro74Leu)
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.55A>G (p.Ile19Val) rs1349028244
NM_000100.3(CSTB):c.67-3T>C rs6383

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