ClinVar Miner

List of variants in gene ADSL reported as pathogenic by Neuberg Centre For Genomic Medicine, NCGM

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_000026.4(ADSL):c.1277G>A (p.Arg426His)	rs119450941	0.00023
NM_000026.4(ADSL):c.1264G>T (p.Asp422Tyr)	rs119450943	0.00002

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