List of variants in gene ARSB reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys)	rs118203943	0.00017
NM_000046.5(ARSB):c.454C>T (p.Arg152Trp)	rs991104525	0.00007
NM_000046.5(ARSB):c.753C>G (p.Tyr251Ter)	rs765711776
NM_000046.5(ARSB):c.962T>C (p.Leu321Pro)	rs1554079320

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