ClinVar Miner

List of variants in gene POLD1 reported as uncertain significance by Counsyl

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile) rs145473716 0.00110
NM_002691.4(POLD1):c.2052G>C (p.Gln684His) rs144143245 0.00045
NM_002691.4(POLD1):c.961G>A (p.Gly321Ser) rs41554817 0.00029
NM_002691.4(POLD1):c.1786G>A (p.Val596Ile) rs773180520 0.00006
NM_002691.4(POLD1):c.17G>A (p.Arg6Gln) rs778275831 0.00006
NM_002691.4(POLD1):c.245C>T (p.Pro82Leu) rs201006221 0.00006
NM_002691.4(POLD1):c.358G>C (p.Gly120Arg) rs746234949 0.00006
NM_002691.4(POLD1):c.2429C>T (p.Ala810Val) rs765981178 0.00004
NM_002691.4(POLD1):c.758G>A (p.Arg253Gln) rs1366413924 0.00003
NM_002691.4(POLD1):c.469G>A (p.Gly157Arg) rs774568050 0.00002
NM_002691.4(POLD1):c.1514G>A (p.Arg505His) rs1043752384 0.00001
NM_002691.4(POLD1):c.2154+4G>A rs373416476 0.00001
NM_002691.4(POLD1):c.2803G>A (p.Ala935Thr) rs555452657 0.00001
NM_002691.4(POLD1):c.317-2A>G rs761230747 0.00001
NM_002691.4(POLD1):c.55C>T (p.Arg19Cys) rs368033860 0.00001
NM_002691.4(POLD1):c.583C>T (p.Arg195Ter) rs377690809 0.00001
NM_002691.4(POLD1):c.590-2A>G rs758877520 0.00001
NM_002691.4(POLD1):c.-1-2A>C rs1254845405
NM_002691.4(POLD1):c.1171dup (p.Asp391fs) rs1555790567
NM_002691.4(POLD1):c.1225C>T (p.Arg409Trp) rs778135510
NM_002691.4(POLD1):c.125_136del (p.Glu42_Glu45del) rs1300269779
NM_002691.4(POLD1):c.1371G>T (p.Met457Ile) rs1457008478
NM_002691.4(POLD1):c.151CAGGAG[1] (p.51QE[1]) rs760207160
NM_002691.4(POLD1):c.1773dup (p.Gly592fs) rs1555791532
NM_002691.4(POLD1):c.208G>T (p.Val70Phe) rs147911699
NM_002691.4(POLD1):c.2443TCC[1] (p.Ser816del) rs763850764
NM_002691.4(POLD1):c.269A>G (p.Gln90Arg) rs778838312
NM_002691.4(POLD1):c.2887_2888insGGCCTGG (p.Ala963fs) rs2039294872
NM_002691.4(POLD1):c.2T>A (p.Met1Lys) rs1057517594
NM_002691.4(POLD1):c.3068-2A>G rs1555793565
NM_002691.4(POLD1):c.3074_3076dup (p.Val1025_Cys1026insLeu) rs1555793570
NM_002691.4(POLD1):c.3305del (p.Pro1102fs) rs761614971
NM_002691.4(POLD1):c.835_837del (p.Glu279del) rs746341854
NM_002691.4(POLD1):c.980C>T (p.Pro327Leu) rs397514633

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