ClinVar Miner

List of variants reported as likely pathogenic for metachromatic leukodystrophy by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

Included ClinVar conditions (7):

Gaucher disease due to saposin C deficiency; Krabbe disease due to saposin A deficiency; Combined PSAP deficiency; Sphingolipid activator protein 1 deficiency
Gaucher disease due to saposin C deficiency; Krabbe disease due to saposin A deficiency; Combined PSAP deficiency; Sphingolipid activator protein 1 deficiency; Parkinson disease 24, autosomal dominant, susceptibility to
Metachromatic leukodystrophy
Metachromatic leukodystrophy, adult type
Metachromatic leukodystrophy, juvenile type
Metachromatic leukodystrophy, late infantile form
Sphingolipid activator protein 1 deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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_000487.6(ARSA):c.1115G>A (p.Arg372Gln)	rs74315477	0.00001
NM_000487.6(ARSA):c.746T>G (p.Phe249Cys)	rs199476384

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