ClinVar Miner

List of variants in gene POLE studied for Facial dysmorphism, immunodeficiency, livedo, and short stature

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Total variants: 6
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NM_006231.3(POLE):c.4246G>A (p.Ala1416Thr) rs146711942
NM_006231.3(POLE):c.4444+3A>G rs398122515
NM_006231.3(POLE):c.5867A>T (p.Glu1956Val) rs780843358
NM_006231.3(POLE):c.5912A>G (p.Asn1971Ser) rs772127913
NM_006231.3(POLE):c.6068C>A (p.Thr2023Asn) rs771628123
NM_006231.3(POLE):c.6136G>A (p.Gly2046Arg) rs1462887616

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