ClinVar Miner

List of variants in gene combination LOC130009366, SACS reported as likely pathogenic for cerebellar ataxia

Included ClinVar conditions (255):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_014363.6(SACS):c.155G>A (p.Trp52Ter)
NM_014363.6(SACS):c.171+1G>A
NM_014363.6(SACS):c.23G>A (p.Trp8Ter) rs1871684539
NM_014363.6(SACS):c.25_27delinsTT (p.Val9fs)
NM_014363.6(SACS):c.29del (p.Pro10fs) rs1057516837
NM_014363.6(SACS):c.34_38del (p.Thr12fs)

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