ClinVar Miner

List of variants studied for Gaucher disease due to saposin C deficiency by OMIM

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
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_002778.4(PSAP):c.1046T>C (p.Leu349Pro)	rs121918110
NM_002778.4(PSAP):c.1144T>G (p.Cys382Gly)	rs121918108
NM_002778.4(PSAP):c.1145G>T (p.Cys382Phe)	rs121918105
NM_002778.4(PSAP):c.1288C>T (p.Gln430Ter)	rs121918109
NM_002778.4(PSAP):c.1A>T (p.Met1Leu)	rs121918106

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