ClinVar Miner

Variants in gene POLD1 with conflicting interpretations "benign" and "uncertain significance"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 22
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HGVS dbSNP gnomAD frequency
NM_002691.4(POLD1):c.778A>G (p.Ile260Val) rs8105725 0.00295
NM_002691.4(POLD1):c.773C>T (p.Thr258Met) rs76131127 0.00176
NM_002691.4(POLD1):c.80A>T (p.Asp27Val) rs150066950 0.00159
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile) rs145473716 0.00110
NM_002691.4(POLD1):c.3054G>A (p.Val1018=) rs369613619 0.00103
NM_002691.4(POLD1):c.581C>G (p.Ser194Cys) rs144656348 0.00061
NM_002691.4(POLD1):c.883G>A (p.Val295Met) rs199545019 0.00060
NM_002691.4(POLD1):c.653G>A (p.Arg218His) rs150010804 0.00045
NM_002691.4(POLD1):c.13C>T (p.Arg5Trp) rs9282830 0.00038
NM_002691.4(POLD1):c.2007-5C>T rs199506387 0.00019
NM_002691.4(POLD1):c.371T>C (p.Val124Ala) rs199993010 0.00013
NM_002691.4(POLD1):c.2388+5G>A rs750085275 0.00009
NM_002691.4(POLD1):c.2718-4G>A rs755348897 0.00008
NM_002691.4(POLD1):c.3218+5G>A rs569395274 0.00006
NM_002691.4(POLD1):c.1504G>A (p.Asp502Asn) rs777866589 0.00004
NM_002691.4(POLD1):c.2429C>T (p.Ala810Val) rs765981178 0.00004
NM_002691.4(POLD1):c.2718-5C>T rs368965066 0.00004
NM_002691.4(POLD1):c.1148C>T (p.Thr383Ile) rs201654210 0.00001
NM_002691.4(POLD1):c.1384-13C>G rs536467012
NM_002691.4(POLD1):c.1494+5C>T rs565428379
NM_002691.4(POLD1):c.208G>T (p.Val70Phe) rs147911699
NM_002691.4(POLD1):c.3316G>A (p.Ala1106Thr) rs778990190

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