List of variants reported as uncertain significance for 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 by Fulgent Genetics, Fulgent Genetics

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_002778.4(PSAP):c.379C>T (p.Arg127Cys)	rs148519599	0.00007
NM_002778.4(PSAP):c.695G>A (p.Arg232His)	rs147265566	0.00006
NM_002778.4(PSAP):c.1192G>A (p.Val398Ile)	rs759178813	0.00001
NM_002778.4(PSAP):c.67A>G (p.Lys23Glu)	rs143016278	0.00001

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