List of variants in gene POLE reported as pathogenic by Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_006231.4(POLE):c.4708C>T (p.Arg1570Ter)	rs1037592848	0.00003
NM_006231.4(POLE):c.5361del (p.Cys1788fs)	rs752558475	0.00001
NM_006231.4(POLE):c.1270C>G (p.Leu424Val)	rs483352909
NM_006231.4(POLE):c.6087G>T (p.Gly2029=)
NM_006231.4(POLE):c.6088del (p.Ala2030fs)	rs1060500809

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