ClinVar Miner

List of variants in gene POLE reported as benign by Genome Diagnostics Laboratory, Amsterdam University Medical Center

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Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.3379-5T>C rs5744886 0.02649
NM_006231.4(POLE):c.3126G>A (p.Lys1042=) rs5744856 0.02344
NM_006231.4(POLE):c.2340G>A (p.Ser780=) rs5744822 0.02051
NM_006231.4(POLE):c.2320-13A>G rs75329753 0.01853
NM_006231.4(POLE):c.2550C>T (p.Ile850=) rs5744834 0.01438
NM_006231.4(POLE):c.6418G>A (p.Glu2140Lys) rs5745066 0.01416
NM_006231.4(POLE):c.5678+4C>T rs5744973 0.01405
NM_006231.4(POLE):c.91G>T (p.Ala31Ser) rs34047482 0.01320
NM_006231.4(POLE):c.6330+18C>T rs5745024 0.01301
NM_006231.4(POLE):c.2174-8G>A rs117409343 0.01137
NM_006231.4(POLE):c.5804G>A (p.Cys1935Tyr) rs5744991 0.00843
NM_006231.4(POLE):c.1007A>G (p.Asn336Ser) rs5744760 0.00805
NM_006231.4(POLE):c.1470C>T (p.Asp490=) rs5744777 0.00614
NM_006231.4(POLE):c.6494G>A (p.Arg2165His) rs5745068 0.00550
NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe) rs73155056 0.00487
NM_006231.4(POLE):c.1359+9G>A rs75135381 0.00461
NM_006231.4(POLE):c.4259C>T (p.Ala1420Val) rs41561818 0.00325
NM_006231.4(POLE):c.5334C>T (p.Ala1778=) rs11146986 0.00205
NM_006231.4(POLE):c.1323G>A (p.Pro441=) rs116573514 0.00174
NM_006231.4(POLE):c.2083T>A (p.Phe695Ile) rs5744799
NM_006231.4(POLE):c.2865-4del rs369732588
NM_006231.4(POLE):c.2865-4dup rs369732588
NM_006231.4(POLE):c.4552-10G>T rs5744946
NM_006231.4(POLE):c.4952+17_4952+19dup rs571641918

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