ClinVar Miner

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

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Total variants: 44
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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.1076A>C (p.Glu359Ala) rs765744298 0.00002
NM_002778.4(PSAP):c.645C>A (p.Asn215Lys) rs770171865 0.00002
NM_002778.4(PSAP):c.607del (p.Gln203fs) rs1489308019 0.00001
NM_002778.4(PSAP):c.650C>T (p.Thr217Ile) rs121918103 0.00001
NC_000010.10:g.(?_73578585)_(73581640_?)del
NC_000010.10:g.(?_73587751)_(73610978_?)del
NC_000010.10:g.(?_73587761)_(73588844_?)del
NC_000010.10:g.(?_73610929)_(73610988_?)del
NM_002778.4(PSAP):c.100del (p.Gln34fs) rs2494541782
NM_002778.4(PSAP):c.1050dup (p.Lys351fs) rs2494498363
NM_002778.4(PSAP):c.1066G>T (p.Glu356Ter) rs2494498245
NM_002778.4(PSAP):c.1120del (p.Glu374fs) rs2133031639
NM_002778.4(PSAP):c.1204C>T (p.Gln402Ter) rs2133031097
NM_002778.4(PSAP):c.1268del (p.Leu423fs) rs1564815053
NM_002778.4(PSAP):c.1340dup (p.Tyr447Ter) rs761831797
NM_002778.4(PSAP):c.1348C>T (p.Gln450Ter) rs1842248191
NM_002778.4(PSAP):c.1402del (p.Glu468fs) rs2494494292
NM_002778.4(PSAP):c.1419del (p.Phe474fs) rs1436008939
NM_002778.4(PSAP):c.148C>T (p.Gln50Ter) rs2494541533
NM_002778.4(PSAP):c.158G>A (p.Trp53Ter) rs2494541474
NM_002778.4(PSAP):c.1A>G (p.Met1Val) rs121918106
NM_002778.4(PSAP):c.1A>T (p.Met1Leu) rs121918106
NM_002778.4(PSAP):c.202del (p.Asp68fs) rs2494535401
NM_002778.4(PSAP):c.299_315del (p.Pro100fs) rs2133048124
NM_002778.4(PSAP):c.2T>G (p.Met1Arg) rs767713908
NM_002778.4(PSAP):c.457C>T (p.Gln153Ter) rs2494526165
NM_002778.4(PSAP):c.527dup (p.Leu177fs) rs2494525720
NM_002778.4(PSAP):c.555_556dup (p.Arg186fs) rs2494525612
NM_002778.4(PSAP):c.577-1G>T rs1589451049
NM_002778.4(PSAP):c.577-2A>G rs1589451050
NM_002778.4(PSAP):c.607C>T (p.Gln203Ter) rs1554880848
NM_002778.4(PSAP):c.643A>C (p.Asn215His) rs121918107
NM_002778.4(PSAP):c.670G>T (p.Glu224Ter) rs2133043442
NM_002778.4(PSAP):c.721T>G (p.Cys241Gly) rs1842392268
NM_002778.4(PSAP):c.722G>C (p.Cys241Ser) rs121918104
NM_002778.4(PSAP):c.722_723delinsAA (p.Cys241Ter) rs2494516881
NM_002778.4(PSAP):c.723_726del (p.Ile240_Cys241insTer) rs2494516860
NM_002778.4(PSAP):c.777+1915C>A rs759960679
NM_002778.4(PSAP):c.785_788del (p.Lys262fs) rs2494506149
NM_002778.4(PSAP):c.816_823del (p.Asp272fs) rs1244889985
NM_002778.4(PSAP):c.828_829del (p.Glu276fs) rs1589448124
NM_002778.4(PSAP):c.83del (p.Gly28fs) rs2133053013
NM_002778.4(PSAP):c.889G>T (p.Glu297Ter) rs765607332

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