ClinVar Miner

List of variants in gene POLE reported by CeGaT Praxis fuer Humangenetik Tuebingen

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Total variants: 6
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HGVS dbSNP
NM_006231.3(POLE):c.3046G>A (p.Val1016Met) rs147692158
NM_006231.3(POLE):c.4229A>C (p.His1410Pro) rs1313711311
NM_006231.3(POLE):c.4478_4479CA[1] (p.Gln1494Glyfs)
NM_006231.3(POLE):c.5769C>T (p.Gly1923=) rs375198950
NM_006231.3(POLE):c.6012C>T (p.Ile2004=) rs147806951
NM_006231.3(POLE):c.6623delA (p.Gln2208Argfs) rs1555301070

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