ClinVar Miner

List of variants reported as pathogenic for autosomal recessive metabolic cerebellar ataxia by Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile

Included ClinVar conditions (9):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)	rs121908096	0.00031
NM_000784.4(CYP27A1):c.1185-1G>T	rs587778779
NM_000784.4(CYP27A1):c.256-1G>T	rs886556800

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