List of variants in gene POLE reported as benign for Colorectal cancer, susceptibility to, 12; Facial dysmorphism-immunodeficiency-livedo-short stature syndrome; Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency

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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: 8

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HGVS	dbSNP	gnomAD frequency
NM_006231.4(POLE):c.3156G>A (p.Thr1052=)	rs5744857	0.53577
NM_006231.4(POLE):c.4530A>G (p.Ala1510=)	rs5744944	0.53564
NM_006231.4(POLE):c.5707C>T (p.Leu1903=)	rs5744990	0.15256
NM_006231.4(POLE):c.755C>T (p.Ala252Val)	rs5744751	0.07688
NM_006231.4(POLE):c.4259C>T (p.Ala1420Val)	rs41561818	0.00325
NM_006231.4(POLE):c.4555C>T (p.Arg1519Cys)	rs542430685	0.00001
NM_006231.4(POLE):c.2865-4del	rs369732588
NM_006231.4(POLE):c.4552-10G>T	rs5744946

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