ClinVar Miner

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

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_002778.4(PSAP):c.1351-14A>G rs4747203 0.34512
NM_002778.4(PSAP):c.1350+5G>A rs11000016 0.16762
NM_002778.4(PSAP):c.1005+18C>T rs55829339 0.13764
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.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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