List of variants in gene PGAP1 reported by CeGaT Center for Human Genetics Tuebingen

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_024989.4(PGAP1):c.2007C>T (p.Ala669=)	rs149815494	0.01375
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.927+4T>C	rs201984003	0.00037
NM_024989.4(PGAP1):c.2375A>G (p.Asn792Ser)	rs36086547	0.00035
NM_024989.4(PGAP1):c.2100G>A (p.Leu700=)	rs139927561	0.00034
NM_024989.4(PGAP1):c.1953G>A (p.Gly651=)	rs148349860	0.00019
NM_024989.4(PGAP1):c.650-6C>T	rs371032957	0.00008
NM_024989.4(PGAP1):c.2197C>T (p.Pro733Ser)	rs753237558	0.00007
NM_024989.4(PGAP1):c.659C>T (p.Thr220Met)	rs774987863	0.00003
NM_024989.4(PGAP1):c.1220G>A (p.Cys407Tyr)	rs1057519176
NM_024989.4(PGAP1):c.1494T>C (p.Phe498=)	rs1553601067

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