ClinVar Miner

List of variants in gene STUB1 studied for autosomal dominant cerebellar ataxia

Included ClinVar conditions (78):
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_005861.4(STUB1):c.134C>A (p.Ala45Glu) rs2151503733
NM_005861.4(STUB1):c.154G>A (p.Ala52Thr) rs2151503748
NM_005861.4(STUB1):c.170C>T (p.Pro57Leu) rs2151504167
NM_005861.4(STUB1):c.194A>G (p.Asn65Ser) rs690016544
NM_005861.4(STUB1):c.199G>A (p.Ala67Thr) rs2151504209
NM_005861.4(STUB1):c.427AAG[2] (p.Lys145del) rs779647632
NM_005861.4(STUB1):c.97G>A (p.Gly33Ser) rs2039634238

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