List of variants in gene LOC130009266, POLE studied 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

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_006231.4(POLE):c.1A>C (p.Met1Leu)	rs878854847	0.00019
NM_006231.4(POLE):c.20G>A (p.Gly7Glu)	rs929537284	0.00004
NM_006231.4(POLE):c.-47G>T	rs1014146082	0.00003
NM_006231.4(POLE):c.34G>A (p.Asp12Asn)	rs1355767159	0.00002
NM_006231.4(POLE):c.44C>T (p.Ala15Val)	rs1565986587	0.00001
NM_006231.4(POLE):c.1A>G (p.Met1Val)	rs878854847
NM_006231.4(POLE):c.2T>C (p.Met1Thr)	rs879254126

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