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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 21

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HGVS	dbSNP	gnomAD frequency
NM_024989.4(PGAP1):c.2042del (p.Leu681fs)	rs756609752	0.00004
NM_024989.4(PGAP1):c.1396C>T (p.Gln466Ter)	rs143038880	0.00001
NM_024989.4(PGAP1):c.1663C>T (p.Gln555Ter)	rs755341613	0.00001
NM_024989.4(PGAP1):c.1952+1G>C	rs587777202	0.00001
NM_024989.4(PGAP1):c.2357_2358insTA (p.Arg786fs)	rs767774867	0.00001
NM_024989.4(PGAP1):c.927+1G>A	rs750079325	0.00001
NM_024989.4(PGAP1):c.1090-2A>G	rs869025581
NM_024989.4(PGAP1):c.1221-3A>G	rs1701868598
NM_024989.4(PGAP1):c.1394_1397del (p.Ile465fs)	rs781325598
NM_024989.4(PGAP1):c.1501-2A>G	rs1288514578
NM_024989.4(PGAP1):c.1572T>A (p.Tyr524Ter)	rs869025578
NM_024989.4(PGAP1):c.1867del (p.Cys623fs)
NM_024989.4(PGAP1):c.1952+1G>T	rs587777202
NM_024989.4(PGAP1):c.20del (p.Asn7fs)
NM_024989.4(PGAP1):c.2274C>G (p.Tyr758Ter)	rs1576086299
NM_024989.4(PGAP1):c.274_276del (p.Pro92del)	rs869025579
NM_024989.4(PGAP1):c.275del (p.Pro92fs)
NM_024989.4(PGAP1):c.427C>T (p.Gln143Ter)	rs1410587479
NM_024989.4(PGAP1):c.586CTT[1] (p.Leu197del)	rs587777378
NM_024989.4(PGAP1):c.776T>G (p.Leu259Ter)	rs1702534679
NM_024989.4(PGAP1):c.921_925del (p.Lys308fs)	rs869025580

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