List of variants reported as benign for Sphingolipid activator protein 1 deficiency by Illumina Laboratory Services, Illumina

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_002778.4(PSAP):c.1351-14A>G	rs4747203	0.34512
NM_002778.4(PSAP):c.*891G>A	rs7869	0.34207
NM_002778.4(PSAP):c.1350+5G>A	rs11000016	0.16762
NM_002778.4(PSAP):c.-4C>T	rs2070188	0.12811
NM_002778.4(PSAP):c.*775G>A	rs79662404	0.01440
NM_002778.4(PSAP):c.-10A>G	rs76455588	0.01197
NM_002778.4(PSAP):c.78C>T (p.Thr26=)	rs74145688	0.00850
NM_002778.4(PSAP):c.1452G>A (p.Ser484=)	rs114389264	0.00778
NM_002778.4(PSAP):c.570G>T (p.Gln190His)	rs142272618

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