ClinVar Miner

List of variants in gene PSAP reported as likely benign for Galactosylceramide beta-galactosidase deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_002778.3(PSAP):c.-65C>T rs145948209 0.00785
NM_001042465.2(PSAP):c.-118G>A rs28365838 0.00331
NM_002778.4(PSAP):c.1056C>T (p.Ser352=) rs138328594 0.00185
NM_002778.4(PSAP):c.167C>G (p.Pro56Arg) rs571773332 0.00004
NM_002778.3(PSAP):c.-33T>C rs143987544

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