ClinVar Miner

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

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_002778.4(PSAP):c.650C>T (p.Thr217Ile) rs121918103 0.00001
NM_002778.4(PSAP):c.577-1G>T rs1589451049
NM_002778.4(PSAP):c.577-2A>G rs1589451050
NM_002778.4(PSAP):c.643A>C (p.Asn215His) rs121918107
NM_002778.4(PSAP):c.722G>C (p.Cys241Ser) rs121918104
NM_002778.4(PSAP):c.777+1915C>A rs759960679
NM_002778.4(PSAP):c.828_829del (p.Glu276fs) rs1589448124

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