ClinVar Miner

List of variants reported as likely benign for Polymerase proofreading-related adenomatous polyposis

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.1007A>G (p.Asn336Ser) rs5744760 0.00805
NM_002691.4(POLD1):c.1977C>T (p.Ile659=) rs45605236 0.00290
NM_002691.4(POLD1):c.80A>T (p.Asp27Val) rs150066950 0.00159
NM_002691.4(POLD1):c.3054G>A (p.Val1018=) rs369613619 0.00103
NM_006231.4(POLE):c.2026+9C>T rs373790607 0.00038
NM_002691.4(POLD1):c.3121-14G>A rs367766963 0.00031
NM_006231.4(POLE):c.1405C>T (p.Leu469=) rs368303888 0.00025
NM_006231.4(POLE):c.561C>T (p.Tyr187=) rs143938822 0.00021
NM_002691.4(POLD1):c.2155-8C>T rs759802920 0.00019
NM_006231.4(POLE):c.2468+12C>T rs776938447 0.00006
NM_006231.4(POLE):c.424-10C>T rs748433747 0.00003
NM_006231.4(POLE):c.4581C>T (p.Gly1527=) rs772646117 0.00001
NM_006231.4(POLE):c.1474-13G>A rs1555228383
NM_006231.4(POLE):c.4635C>T (p.Leu1545=) rs199945393

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