ClinVar Miner

List of variants in gene POLE reported as likely pathogenic

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Gene type:
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Total variants: 13
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NM_006231.3(POLE):c.1089C>G (p.Asn363Lys) rs146639652
NM_006231.3(POLE):c.1231G>T (p.Val411Leu) rs1057519945
NM_006231.3(POLE):c.141del (p.Phe48fs) rs761329565
NM_006231.3(POLE):c.2932G>T (p.Glu978Ter) rs1555225958
NM_006231.3(POLE):c.3373C>T (p.Arg1125Ter) rs139603739
NM_006231.3(POLE):c.4444+3A>G rs398122515
NM_006231.3(POLE):c.4478_4479CA[1] (p.Gln1494fs)
NM_006231.3(POLE):c.5867A>T (p.Glu1956Val) rs780843358
NM_006231.3(POLE):c.5912A>G (p.Asn1971Ser) rs772127913
NM_006231.3(POLE):c.6623del (p.Gln2208fs) rs1555301070
NM_006231.3(POLE):c.856C>T (p.Pro286Ser) rs1057519944
NM_006231.3(POLE):c.857C>A (p.Pro286His) rs1057519943
NM_006231.3(POLE):c.857C>G (p.Pro286Arg) rs1057519943

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