List of variants studied for Sphingolipid activator protein 1 deficiency by Genome-Nilou Lab

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_002778.4(PSAP):c.1432-22C>T	rs885828	0.34727
NM_002778.4(PSAP):c.1351-14A>G	rs4747203	0.34512
NM_002778.4(PSAP):c.1431+116C>T	rs749823	0.20609
NM_002778.4(PSAP):c.1350+5G>A	rs11000016	0.16762
NM_001042465.2(PSAP):c.-130T>C	rs12261323	0.14433
NM_002778.4(PSAP):c.1540-34C>T	rs4747202	0.13788
NM_002778.4(PSAP):c.1005+18C>T	rs55829339	0.13764
NM_002778.4(PSAP):c.-4C>T	rs2070188	0.12811
NM_002778.4(PSAP):c.909+32G>T	rs41307569	0.06451
NM_002778.4(PSAP):c.1281C>T (p.Ser427=)	rs529776324	0.00004
NM_002778.4(PSAP):c.1193-26G>A	rs3747860

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