ClinVar Miner

List of variants reported as likely pathogenic for autosomal recessive syndromic cerebellar ataxia by Genetics and Molecular Pathology, SA Pathology

Included ClinVar conditions (7):

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_007254.4(PNKP):c.1029+2T>C	rs199919568	0.00115
NM_015378.4(VPS13D):c.10562A>G (p.Asn3521Ser)	rs1557737087

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