List of variants in gene PGAP1 reported by Genetic Services Laboratory, University of Chicago

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_024989.4(PGAP1):c.1753C>G (p.Gln585Glu)	rs62185645	0.00410
NM_024989.4(PGAP1):c.906T>C (p.Leu302=)	rs138525017	0.00283
NM_024989.4(PGAP1):c.331A>G (p.Lys111Glu)	rs142320636	0.00077
NM_024989.4(PGAP1):c.2375A>G (p.Asn792Ser)	rs36086547	0.00035
NM_024989.4(PGAP1):c.692G>A (p.Arg231Gln)	rs368553507	0.00009
NM_024989.4(PGAP1):c.1691T>C (p.Leu564Ser)	rs572992003	0.00004
NM_024989.4(PGAP1):c.2408G>A (p.Arg803His)	rs745554603	0.00004
NM_024989.4(PGAP1):c.2440C>T (p.Arg814Cys)	rs755267355	0.00003
NM_024989.4(PGAP1):c.44T>C (p.Val15Ala)	rs373419311	0.00002
NM_024989.4(PGAP1):c.2204T>A (p.Leu735Ter)	rs1361547443	0.00001
NM_024989.4(PGAP1):c.927+1G>A	rs750079325	0.00001
NM_024989.4(PGAP1):c.1447G>C (p.Val483Leu)	rs1329688368
NM_024989.4(PGAP1):c.1494T>C (p.Phe498=)	rs1553601067
NM_024989.4(PGAP1):c.1948T>C (p.Leu650=)	rs1488181217
NM_024989.4(PGAP1):c.1969G>A (p.Glu657Lys)	rs1169608420

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