ClinVar Miner

List of variants in gene PSAP reported as likely pathogenic for Gaucher disease due to saposin C deficiency

Included ClinVar conditions (3):

Gaucher disease due to saposin C deficiency
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

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_002778.4(PSAP):c.679_681del (p.Lys227del)	rs1431844269	0.00003
NM_002778.4(PSAP):c.1076A>C (p.Glu359Ala)	rs765744298

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