ClinVar Miner

List of variants in gene PNPLA6 reported as likely pathogenic for spastic ataxia

Included ClinVar conditions (21):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
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_001166114.2(PNPLA6):c.3028G>C (p.Gly1010Arg)	rs768107851	0.00001
NM_001166114.2(PNPLA6):c.629G>A (p.Gly210Asp)	rs780995803

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