ClinVar Miner

List of variants in gene PSAP reported as pathogenic for Gaucher disease

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_002778.4(PSAP):c.1005+1G>A rs113365744
NM_002778.4(PSAP):c.1046T>C (p.Leu349Pro) rs121918110
NM_002778.4(PSAP):c.1144T>G (p.Cys382Gly) rs121918108
NM_002778.4(PSAP):c.1145G>T (p.Cys382Phe) rs121918105
NM_002778.4(PSAP):c.1288C>T (p.Gln430Ter) rs121918109
NM_002778.4(PSAP):c.1369G>T (p.Glu457Ter) rs1554879741
NM_002778.4(PSAP):c.1A>T (p.Met1Leu) rs121918106

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