ClinVar Miner

List of variants in gene POLD1 reported as uncertain significance by PreventionGenetics, part of Exact Sciences

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Total variants: 53
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HGVS dbSNP gnomAD frequency
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.2861C>G (p.Thr954Arg) rs374016016 0.00026
NM_002691.4(POLD1):c.2017G>A (p.Glu673Lys) rs61751955 0.00018
NM_002691.4(POLD1):c.521G>A (p.Arg174Gln) rs141976385 0.00011
NM_002691.4(POLD1):c.1786G>A (p.Val596Ile) rs773180520 0.00006
NM_002691.4(POLD1):c.245C>T (p.Pro82Leu) rs201006221 0.00006
NM_002691.4(POLD1):c.301A>T (p.Ile101Phe) rs140858857 0.00006
NM_002691.4(POLD1):c.3038T>C (p.Ile1013Thr) rs368439344 0.00006
NM_002691.4(POLD1):c.3103G>C (p.Glu1035Gln) rs879254134 0.00005
NM_002691.4(POLD1):c.1930G>A (p.Asp644Asn) rs763465385 0.00004
NM_002691.4(POLD1):c.2290G>A (p.Gly764Ser) rs148838746 0.00004
NM_002691.4(POLD1):c.2360C>T (p.Pro787Leu) rs199783227 0.00004
NM_002691.4(POLD1):c.49C>T (p.Arg17Trp) rs570461545 0.00004
NM_002691.4(POLD1):c.530G>A (p.Arg177His) rs3218750 0.00004
NM_002691.4(POLD1):c.3016G>A (p.Ala1006Thr) rs376197467 0.00003
NM_002691.4(POLD1):c.784G>A (p.Gly262Ser) rs571623032 0.00003
NM_002691.4(POLD1):c.1027C>T (p.Arg343Cys) rs762494977 0.00002
NM_002691.4(POLD1):c.1055G>A (p.Arg352His) rs556862476 0.00002
NM_002691.4(POLD1):c.1517G>A (p.Arg506His) rs140379348 0.00002
NM_002691.4(POLD1):c.1918A>G (p.Thr640Ala) rs201212113 0.00002
NM_002691.4(POLD1):c.2316G>A (p.Met772Ile) rs750956986 0.00002
NM_002691.4(POLD1):c.241C>T (p.Arg81Trp) rs752124373 0.00002
NM_002691.4(POLD1):c.3136G>T (p.Ala1046Ser) rs751088347 0.00002
NM_002691.4(POLD1):c.3157C>T (p.Arg1053Cys) rs779208942 0.00002
NM_002691.4(POLD1):c.1054C>T (p.Arg352Cys) rs762330164 0.00001
NM_002691.4(POLD1):c.1646G>A (p.Arg549His) rs201038430 0.00001
NM_002691.4(POLD1):c.1681C>T (p.Arg561Trp) rs368738479 0.00001
NM_002691.4(POLD1):c.203G>A (p.Gly68Glu) rs144707871 0.00001
NM_002691.4(POLD1):c.2231G>A (p.Gly744Asp) rs1555792558 0.00001
NM_002691.4(POLD1):c.2758G>A (p.Asp920Asn) rs1060501811 0.00001
NM_002691.4(POLD1):c.2969G>A (p.Arg990His) rs771789997 0.00001
NM_002691.4(POLD1):c.2T>C (p.Met1Thr) rs1057517594 0.00001
NM_002691.4(POLD1):c.866A>G (p.Asp289Gly) rs878854558 0.00001
NM_002691.4(POLD1):c.917G>A (p.Arg306His) rs781682472 0.00001
NM_002691.4(POLD1):c.1234A>G (p.Thr412Ala) rs1038164521
NM_002691.4(POLD1):c.1495-15_1495-14delinsGA rs1064794332
NM_002691.4(POLD1):c.1582G>A (p.Val528Met) rs2122338174
NM_002691.4(POLD1):c.175C>T (p.Gln59Ter) rs1601189472
NM_002691.4(POLD1):c.1776-20CG[3]
NM_002691.4(POLD1):c.1776-32C>G
NM_002691.4(POLD1):c.1776-68C>T
NM_002691.4(POLD1):c.2560G>A (p.Asp854Asn) rs373650022
NM_002691.4(POLD1):c.2560G>T (p.Asp854Tyr) rs373650022
NM_002691.4(POLD1):c.2995G>A (p.Val999Met) rs2122496569
NM_002691.4(POLD1):c.3010G>A (p.Ala1004Thr) rs767795037
NM_002691.4(POLD1):c.3172T>G (p.Cys1058Gly)
NM_002691.4(POLD1):c.3257G>C (p.Arg1086Pro) rs3219457
NM_002691.4(POLD1):c.532G>C (p.Gly178Arg) rs140707092
NM_002691.4(POLD1):c.577T>G (p.Cys193Gly)
NM_002691.4(POLD1):c.584G>A (p.Arg195Gln) rs1555789938
NM_002691.4(POLD1):c.687G>C (p.Gln229His) rs1333627312
NM_002691.4(POLD1):c.835_837del (p.Glu279del) rs746341854

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