ClinVar Miner

List of variants in gene POLE reported as uncertain significance for Polymerase proofreading-related adenomatous polyposis

Included ClinVar conditions (1):
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Gene type:
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.2561+6T>C rs116231808 0.00179
NM_006231.4(POLE):c.4057A>G (p.Ser1353Gly) rs141619382 0.00063
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr) rs201115064 0.00024
NM_006231.4(POLE):c.1738C>A (p.His580Asn) rs371149234 0.00011
NM_006231.4(POLE):c.1794+5C>T rs200095915 0.00006
NM_006231.4(POLE):c.2053C>T (p.Arg685Trp) rs116326665 0.00004
NM_006231.4(POLE):c.6445C>T (p.Arg2149Cys) rs771490182 0.00004
NM_006231.4(POLE):c.6539C>T (p.Ala2180Val) rs552452448 0.00004
NM_006231.4(POLE):c.2270C>T (p.Thr757Ile) rs1565964638
NM_006231.4(POLE):c.4729-11C>T rs1555222633
NM_006231.4(POLE):c.5147T>G (p.Ile1716Ser) rs2042160664

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