ClinVar Miner

List of variants studied for cerebellar ataxia by Department of Biochemistry, Faculty of Medicine, University of Khartoum

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_001001344.3(ATP2B3):c.2086C>T (p.Arg696Cys) rs782683285 0.00003
NM_001080414.4(CCDC88C):c.1993G>A (p.Glu665Lys) rs956104232 0.00001
NM_003383.5(VLDLR):c.2144G>A (p.Cys715Tyr)
NM_014363.6(SACS):c.10444_10447del (p.Leu3482fs)
NM_022464.5(SIL1):c.767+1G>A

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