ClinVar Miner

List of variants in gene POLE reported as not provided

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.910-6G>C rs4077170 0.64353
NM_006231.4(POLE):c.861T>A (p.Asp287Glu) rs139075637 0.00122
NM_006231.4(POLE):c.6658-7C>A rs531482240 0.00011
NM_006231.4(POLE):c.6730C>T (p.Leu2244Phe) rs375741031 0.00010
NM_006231.4(POLE):c.4901G>A (p.Arg1634His) rs760149463 0.00006
NM_006231.4(POLE):c.844C>T (p.Pro282Ser) rs138207610 0.00005
NM_006231.4(POLE):c.1676G>A (p.Arg559Gln) rs766276875 0.00003
NM_006231.4(POLE):c.3377C>T (p.Ala1126Val) rs373707446 0.00003
NM_006231.4(POLE):c.1993C>T (p.Arg665Trp) rs367902268 0.00002
NM_006231.4(POLE):c.3745G>A (p.Val1249Met) rs762626359 0.00002
NM_006231.4(POLE):c.5468G>A (p.Arg1823His) rs767747669 0.00002
NM_006231.4(POLE):c.1550C>T (p.Pro517Leu) rs780556141 0.00001
NM_006231.4(POLE):c.4172C>G (p.Ser1391Cys) rs149145495 0.00001
NM_006231.4(POLE):c.3076_3096dup (p.Asp1026_Leu1032dup) rs1555225690
NM_006231.4(POLE):c.331-2A>G rs1565980363
NM_006231.4(POLE):c.3379-1G>T rs2138660149
NM_006231.4(POLE):c.349T>G (p.Ser117Ala) rs2043134882
NM_006231.4(POLE):c.4450A>G (p.Ile1484Val) rs772734618
NM_006231.4(POLE):c.4924T>C (p.Cys1642Arg) rs1593730686
NM_006231.4(POLE):c.5060C>T (p.Ser1687Phe) rs1565936909
NM_006231.4(POLE):c.5477G>C (p.Arg1826Pro) rs1555221919
NM_006231.4(POLE):c.720+1G>A rs1060500808
NM_006231.4(POLE):c.840A>C (p.Lys280Asn) rs908089476

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