ClinVar Miner

List of variants in gene POLE reported as pathogenic for INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY

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Total variants: 5
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HGVS dbSNP
NM_006231.3(POLE):c.1686+32C>G rs762985435
NM_006231.3(POLE):c.1A>T (p.Met1Leu) rs878854847
NM_006231.3(POLE):c.2049C>G (p.Tyr683Ter) rs1196356920
NM_006231.3(POLE):c.3019G>C (p.Ala1007Pro) rs747692201
NM_006231.3(POLE):c.5265del (p.Ile1756fs) rs1555222342

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