ClinVar Miner

List of variants in gene POLE reported as likely pathogenic for Colorectal cancer, susceptibility to, 12

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NC_000012.11:g.(?_133210752)_(133210984_?)dup
NM_006231.4(POLE):c.1372T>C (p.Tyr458His)
NM_006231.4(POLE):c.141del (p.Phe48fs) rs761329565
NM_006231.4(POLE):c.2154del (p.Lys717_Tyr718insTer) rs2542096701
NM_006231.4(POLE):c.2468+1G>T rs1060500806
NM_006231.4(POLE):c.2753C>A (p.Ser918Ter) rs2135949218
NM_006231.4(POLE):c.2932G>T (p.Glu978Ter) rs1555225958
NM_006231.4(POLE):c.3339G>A (p.Trp1113Ter) rs757377081
NM_006231.4(POLE):c.579-1G>C rs775867835

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