ClinVar Miner

List of variants reported as pathogenic for cerebellar disorder by Pathology and Clinical Laboratory Medicine, King Fahad Medical City

Included ClinVar conditions (274):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_015046.7(SETX):c.6638C>T (p.Pro2213Leu) rs28940290

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