List of variants reported as likely pathogenic for Sphingolipid activator protein 1 deficiency by Invitae

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Total variants: 22

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HGVS	dbSNP	gnomAD frequency
NM_002778.4(PSAP):c.679_681del (p.Lys227del)	rs1431844269	0.00003
NM_002778.4(PSAP):c.576+1G>A	rs949729827	0.00001
NM_002778.4(PSAP):c.910-2A>G	rs779384030	0.00001
NC_000010.11:g.(?_71828004)_(71834515_?)dup
NM_002778.4(PSAP):c.1005+1G>A	rs113365744
NM_002778.4(PSAP):c.1005+1G>C
NM_002778.4(PSAP):c.1006-2A>G	rs1589446748
NM_002778.4(PSAP):c.1193-1G>C
NM_002778.4(PSAP):c.1350+1G>A	rs2133030537
NM_002778.4(PSAP):c.1351-2A>G	rs2133029725
NM_002778.4(PSAP):c.250-1G>C
NM_002778.4(PSAP):c.375+1G>T	rs2133047947
NM_002778.4(PSAP):c.375+2T>G
NM_002778.4(PSAP):c.41-17_42del	rs2133053107
NM_002778.4(PSAP):c.643A>C (p.Asn215His)	rs121918107
NM_002778.4(PSAP):c.720+1G>A
NM_002778.4(PSAP):c.720+2_720+5del	rs2133043288
NM_002778.4(PSAP):c.721-1G>A	rs1842392331
NM_002778.4(PSAP):c.721-1G>C	rs1842392331
NM_002778.4(PSAP):c.777+1G>A
NM_002778.4(PSAP):c.777+1G>T
NM_002778.4(PSAP):c.778-2A>G

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