ClinVar Miner

List of variants studied for Polymerase proofreading-related adenomatous polyposis by Department of Pathology and Laboratory Medicine, Sinai Health System

Included ClinVar conditions (1):
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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.2469-15G>A rs5744833 0.07057
NM_006231.4(POLE):c.5678+4C>T rs5744973 0.01405
NM_002691.4(POLD1):c.849G>T (p.Gln283His) rs113282414 0.01085
NM_006231.4(POLE):c.5804G>A (p.Cys1935Tyr) rs5744991 0.00898
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_006231.4(POLE):c.2561+6T>C rs116231808 0.00179
NM_002691.4(POLD1):c.80A>T (p.Asp27Val) rs150066950 0.00159
NM_006231.4(POLE):c.1323G>A (p.Pro441=) rs116573514 0.00106
NM_002691.4(POLD1):c.3054G>A (p.Val1018=) rs369613619 0.00103
NM_006231.4(POLE):c.4057A>G (p.Ser1353Gly) rs141619382 0.00063
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.2683G>A (p.Ala895Thr) rs201115064 0.00024
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.1738C>A (p.His580Asn) rs371149234 0.00011
NM_006231.4(POLE):c.1794+5C>T rs200095915 0.00006
NM_006231.4(POLE):c.2468+12C>T rs776938447 0.00006
NM_002691.4(POLD1):c.1383+8C>T rs374719944 0.00004
NM_006231.4(POLE):c.2053C>T (p.Arg685Trp) rs116326665 0.00004
NM_006231.4(POLE):c.6539C>T (p.Ala2180Val) rs552452448 0.00004
NM_002691.4(POLD1):c.1362C>T (p.Arg454=) rs773075581 0.00003
NM_006231.4(POLE):c.424-10C>T rs748433747 0.00003
NM_002691.4(POLD1):c.1791C>T (p.Pro597=) rs138293440 0.00002
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.2270C>T (p.Thr757Ile) rs1565964638
NM_006231.4(POLE):c.43G>C (p.Ala15Pro) rs1060500788
NM_006231.4(POLE):c.4635C>T (p.Leu1545=) rs199945393
NM_006231.4(POLE):c.4729-11C>T rs1555222633
NM_006231.4(POLE):c.5147T>G (p.Ile1716Ser) rs2042160664

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