ClinVar Miner

List of variants reported as likely pathogenic for autosomal recessive degenerative and progressive cerebellar ataxia by Revvity Omics, Revvity

Included ClinVar conditions (11):

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_014053.4(FLVCR1):c.1092+5G>A	rs556788423	0.00032
NM_022464.5(SIL1):c.1030-9G>A	rs370290043	0.00006
NM_022464.5(SIL1):c.1249C>T (p.Gln417Ter)

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