ClinVar Miner

List of variants reported as likely pathogenic for cerebellar ataxia by Hadassah Hebrew University Medical Center

Included ClinVar conditions (255):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_007254.4(PNKP):c.968C>T (p.Thr323Met) rs372148913 0.00005
NM_001044385.3(TMEM237):c.418C>T (p.Gln140Ter) rs972221242
NM_014363.6(SACS):c.964G>T (p.Glu322Ter) rs1593145590
NM_016373.4(WWOX):c.108-2A>T rs1597207802
NM_025114.4(CEP290):c.734_735del (p.Glu245fs) rs1592671672

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