ClinVar Miner

List of variants reported as benign for Sphingolipid activator protein 1 deficiency by Genome-Nilou Lab

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Total variants: 9
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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_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.1193-26G>A rs3747860

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