List of variants 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 by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_006231.4(POLE):c.4246G>A (p.Ala1416Thr)	rs146711942	0.00034
NM_006231.4(POLE):c.3219G>T (p.Gly1073=)	rs760636704	0.00001
NM_006231.4(POLE):c.94C>T (p.Leu32Phe)	rs781513537	0.00001
NM_006231.4(POLE):c.6068C>A (p.Thr2023Asn)	rs771628123
NM_006231.4(POLE):c.6136G>A (p.Gly2046Arg)	rs1462887616
NM_006231.4(POLE):c.6334C>G (p.Leu2112Val)	rs373443211

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