List of variants in gene ARSA reported as pathogenic by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter)	rs761860059	0.00002
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser)	rs74315461	0.00001
NM_000487.6(ARSA):c.433C>T (p.Arg145Ter)	rs199476373	0.00001
NM_000487.6(ARSA):c.1030del (p.Ala344fs)
NM_000487.6(ARSA):c.374A>C (p.Lys125Thr)
NM_000487.6(ARSA):c.582del (p.Trp195fs)	rs2082680996
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg)	rs74315471
NM_000487.6(ARSA):c.891_895del (p.Gly298fs)
NM_000487.6(ARSA):c.917C>T (p.Thr306Met)	rs199476359

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