List of variants in gene ARSA reported as pathogenic for Metachromatic leukodystrophy, severe

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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.1010A>T (p.Asp337Val)	rs74315475	0.00006
NM_000487.6(ARSA):c.827C>T (p.Thr276Met)	rs74315472	0.00001
NM_000487.6(ARSA):c.1114C>T (p.Arg372Trp)	rs74315476
NM_000487.6(ARSA):c.263G>A (p.Gly88Asp)	rs74315460
NM_000487.6(ARSA):c.292_293delinsCT (p.Ser98Leu)	rs199476371
NM_000487.6(ARSA):c.413C>T (p.Pro138Leu)	rs74315462
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg)	rs74315471
NM_000487.6(ARSA):c.854+1G>A	rs886041911
NM_000487.6(ARSA):c.890C>A (p.Ser297Tyr)	rs74315474

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