ClinVar Miner

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

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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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
NM_025114.4(CEP290):c.4714G>A (p.Glu1572Lys) rs1292516576
NM_025114.4(CEP290):c.5704G>T (p.Glu1902Ter) rs267606719

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