ClinVar Miner

List of variants in gene POLE reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Gene type:
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.3582+17A>G rs5744889 0.97472
NM_006231.4(POLE):c.6252A>G (p.Ser2084=) rs5745022 0.66039
NM_006231.4(POLE):c.910-6G>C rs4077170 0.64353
NM_006231.4(POLE):c.3156G>A (p.Thr1052=) rs5744857 0.53577
NM_006231.4(POLE):c.4530A>G (p.Ala1510=) rs5744944 0.53564
NM_006231.4(POLE):c.6330+15G>A rs5745023 0.49667
NM_006231.4(POLE):c.6657+16C>T rs5745075 0.34836
NM_006231.4(POLE):c.5707C>T (p.Leu1903=) rs5744990 0.15505
NM_006231.4(POLE):c.4187A>G (p.Asn1396Ser) rs5744934 0.12807
NM_006231.4(POLE):c.755C>T (p.Ala252Val) rs5744751 0.07688
NM_006231.4(POLE):c.4444+4T>A rs5744941 0.05640
NM_006231.4(POLE):c.2320-13A>G rs75329753 0.01853
NM_006231.4(POLE):c.6418G>A (p.Glu2140Lys) rs5745066 0.01416
NM_006231.4(POLE):c.91G>T (p.Ala31Ser) rs34047482 0.01320
NM_006231.4(POLE):c.5804G>A (p.Cys1935Tyr) rs5744991 0.00898
NM_006231.4(POLE):c.1470C>T (p.Asp490=) rs5744777 0.00679
NM_006231.4(POLE):c.6494G>A (p.Arg2165His) rs5745068 0.00550
NM_006231.4(POLE):c.6675C>T (p.Arg2225=) rs149973644 0.00125
NM_006231.4(POLE):c.1323G>A (p.Pro441=) rs116573514 0.00106
NM_006231.4(POLE):c.1360-6C>T rs139836643 0.00101
NM_006231.4(POLE):c.4552-10G>T rs5744946
NM_006231.4(POLE):c.800C>T (p.Pro267Leu) rs2136018387

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