ClinVar Miner

List of variants in gene PGAP1 reported as likely pathogenic for autosomal recessive disease

Included ClinVar conditions (1196):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_024989.4(PGAP1):c.2042del (p.Leu681fs) rs756609752 0.00004
NM_024989.4(PGAP1):c.2204T>A (p.Leu735Ter) rs1361547443 0.00001
NM_024989.4(PGAP1):c.2286+1G>A rs1406991265 0.00001
NM_024989.4(PGAP1):c.1066A>T (p.Lys356Ter) rs1576164991
NM_024989.4(PGAP1):c.1272G>A (p.Lys424=)
NM_024989.4(PGAP1):c.1351-2A>G
NM_024989.4(PGAP1):c.2274C>G (p.Tyr758Ter) rs1576086299
NM_024989.4(PGAP1):c.2287-1G>A
NM_024989.4(PGAP1):c.2338-2A>C rs1559328283
NM_024989.4(PGAP1):c.2393C>G (p.Ser798Ter)
NM_024989.4(PGAP1):c.289del (p.Ser97fs)
NM_024989.4(PGAP1):c.586CTT[1] (p.Leu197del) rs587777378

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