ClinVar Miner

Variants in gene POLE with conflicting interpretations "pathogenic" and "likely pathogenic"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 19
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HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.270del (p.Asp90fs) rs878854854 0.00002
NM_006231.4(POLE):c.4872G>A (p.Trp1624Ter) rs754982151 0.00002
NM_006231.4(POLE):c.1467_1468del (p.Asp490fs) rs1060500792 0.00001
NM_006231.4(POLE):c.3373C>T (p.Arg1125Ter) rs139603739 0.00001
NM_006231.4(POLE):c.3677_3678del (p.Pro1226fs) rs765645032 0.00001
NM_006231.4(POLE):c.5422C>T (p.Gln1808Ter) rs1167794021 0.00001
NM_006231.4(POLE):c.5940G>A (p.Trp1980Ter) rs1470483579 0.00001
NM_006231.4(POLE):c.6418del (p.Glu2140fs) rs1064794703 0.00001
NM_006231.4(POLE):c.941C>G (p.Ser314Ter) rs869312803 0.00001
NM_006231.4(POLE):c.2091del (p.Leu698fs) rs752846614
NM_006231.4(POLE):c.2731del (p.Gln911fs) rs1555226051
NM_006231.4(POLE):c.2932G>T (p.Glu978Ter) rs1555225958
NM_006231.4(POLE):c.3264_3275+13del rs761516512
NM_006231.4(POLE):c.3415_3420delinsTG (p.Gly1138_Ser1139insTer) rs1555225201
NM_006231.4(POLE):c.4337_4338dup (p.Val1447fs) rs758487568
NM_006231.4(POLE):c.4480_4481del (p.Gln1494fs) rs1593733806
NM_006231.4(POLE):c.6538del (p.Ala2180fs) rs1566308645
NM_006231.4(POLE):c.6565_6568del (p.Asn2189fs)
NM_006231.4(POLE):c.6623del (p.Gln2208fs) rs1555301070

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