List of variants reported as benign for Sphingolipid activator protein 1 deficiency

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Total variants: 34

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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.*891G>A	rs7869	0.34207
NM_002778.4(PSAP):c.1431+116C>T	rs749823	0.20609
NM_002778.4(PSAP):c.1350+5G>A	rs11000016	0.16762
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.*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.204C>T (p.Asp68=)	rs143981174	0.00484
NM_002778.4(PSAP):c.1380C>T (p.Pro460=)	rs1049882	0.00284
NM_002778.4(PSAP):c.16C>T (p.Leu6Phe)	rs148279196	0.00269
NM_002778.4(PSAP):c.189C>T (p.Cys63=)	rs111369573	0.00266
NM_002778.4(PSAP):c.1056C>T (p.Ser352=)	rs138328594	0.00185
NM_002778.4(PSAP):c.120C>T (p.Ser40=)	rs141231601	0.00134
NM_002778.4(PSAP):c.714C>G (p.Ala238=)	rs141199649	0.00076
NM_002778.4(PSAP):c.88G>T (p.Ala30Ser)	rs144942998	0.00051
NM_002778.4(PSAP):c.1193-18C>T	rs200988983	0.00010
NM_002778.4(PSAP):c.577-10T>C	rs185892516	0.00009
NM_002778.4(PSAP):c.1281C>T (p.Ser427=)	rs529776324	0.00004
NM_002778.4(PSAP):c.336C>T (p.Ser112=)	rs370977178	0.00003
NM_002778.4(PSAP):c.10C>G (p.Leu4Val)	rs574280149	0.00002
NM_002778.4(PSAP):c.1137G>C (p.Glu379Asp)	rs754680319	0.00002
NM_002778.4(PSAP):c.128G>A (p.Gly43Glu)	rs558427025	0.00001
NM_002778.4(PSAP):c.1193-26G>A	rs3747860
NM_002778.4(PSAP):c.1540-13TC[2]	rs770871198
NM_002778.4(PSAP):c.319A>C (p.Lys107Gln)	rs752007600
NM_002778.4(PSAP):c.409C>G (p.Leu137Val)	rs377027316
NM_002778.4(PSAP):c.41-17G>A	rs181164406
NM_002778.4(PSAP):c.570G>T (p.Gln190His)	rs142272618

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