List of variants reported as likely benign for Gaucher disease due to saposin C deficiency

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_002778.4(PSAP):c.88G>T (p.Ala30Ser)	rs144942998	0.00051
NM_002778.4(PSAP):c.-29C>T	rs201780377	0.00035
NM_002778.4(PSAP):c.*376A>G	rs141906397	0.00016
NM_002778.4(PSAP):c.*737G>A	rs147046509	0.00016
NM_002778.4(PSAP):c.557G>A (p.Arg186His)	rs138880818	0.00013
NM_002778.4(PSAP):c.1172C>T (p.Thr391Met)	rs202125074	0.00010
NM_002778.4(PSAP):c.1456C>T (p.His486Tyr)	rs749660716	0.00008
NM_002778.4(PSAP):c.1000A>T (p.Thr334Ser)	rs749663645	0.00006
NM_002778.4(PSAP):c.227T>A (p.Met76Lys)	rs377024801	0.00006
NM_002778.4(PSAP):c.249+6C>T	rs774663731	0.00006
NM_002778.4(PSAP):c.112A>T (p.Thr38Ser)	rs535525554	0.00002
NM_002778.4(PSAP):c.1432-4A>G	rs775086571	0.00001

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