ClinVar Miner

List of variants in gene STUB1 reported as pathogenic for cerebellar disorder

Included ClinVar conditions (274):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln) rs146251364 0.00063
NM_005861.4(STUB1):c.168C>G (p.Asn56Lys)
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.235G>A (p.Ala79Thr) rs587777346
NM_005861.4(STUB1):c.236C>A (p.Ala79Asp) rs587777347
NM_005861.4(STUB1):c.367C>G (p.Leu123Val) rs587777344
NM_005861.4(STUB1):c.389A>T (p.Asn130Ile) rs587777341
NM_005861.4(STUB1):c.441G>T (p.Trp147Cys) rs587777342
NM_005861.4(STUB1):c.493C>T (p.Leu165Phe) rs587777340
NM_005861.4(STUB1):c.97G>A (p.Gly33Ser) rs2039634238

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