ClinVar Miner

List of variants reported as not provided for metachromatic leukodystrophy by GenomeConnect, ClinGen

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.465+1G>A	rs80338815	0.00046
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser)	rs74315457	0.00029

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