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

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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: 7

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HGVS	dbSNP	gnomAD frequency
NM_000487.6(ARSA):c.465+1G>A	rs80338815	0.00046
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu)	rs28940893	0.00037
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser)	rs74315457	0.00029
NM_000487.6(ARSA):c.1229C>T (p.Thr410Ile)	rs28940895	0.00001
NM_000487.6(ARSA):c.302G>A (p.Gly101Asp)	rs74315455
NM_000487.6(ARSA):c.410T>C (p.Leu137Pro)	rs121434215
NM_000487.6(ARSA):c.862A>C (p.Thr288Pro)	rs28940894

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