ClinVar Miner

List of variants reported as uncertain significance for Colorectal cancer, susceptibility to, 10; Mandibular hypoplasia-deafness-progeroid syndrome; Immunodeficiency 120 by Fulgent Genetics, Fulgent Genetics

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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_002691.4(POLD1):c.2017G>A (p.Glu673Lys) rs61751955 0.00018
NM_002691.4(POLD1):c.353C>T (p.Ser118Phe) rs780604625 0.00016
NM_002691.4(POLD1):c.2987C>T (p.Thr996Met) rs918661445 0.00010
NM_002691.4(POLD1):c.3271G>A (p.Asp1091Asn) rs946088822 0.00009
NM_002691.4(POLD1):c.2317G>A (p.Ala773Thr) rs753865441 0.00008
NM_002691.4(POLD1):c.14G>A (p.Arg5Gln) rs748471297 0.00006
NM_002691.4(POLD1):c.34G>A (p.Gly12Arg) rs772197667 0.00006
NM_002691.4(POLD1):c.934G>A (p.Val312Met) rs371612922 0.00006
NM_002691.4(POLD1):c.1295G>A (p.Arg432Gln) rs139557851 0.00005
NM_002691.4(POLD1):c.2360C>T (p.Pro787Leu) rs199783227 0.00004
NM_002691.4(POLD1):c.2429C>T (p.Ala810Val) rs765981178 0.00004
NM_002691.4(POLD1):c.2455G>A (p.Asp819Asn) rs372947760 0.00004
NM_002691.4(POLD1):c.1403A>G (p.Lys468Arg) rs1004191319 0.00003
NM_002691.4(POLD1):c.2590G>A (p.Ala864Thr) rs765437818 0.00003
NM_002691.4(POLD1):c.554C>T (p.Pro185Leu) rs370292497 0.00003
NM_002691.4(POLD1):c.1072C>T (p.Arg358Trp) rs751775497 0.00002
NM_002691.4(POLD1):c.1517G>A (p.Arg506His) rs140379348 0.00002
NM_002691.4(POLD1):c.2704G>C (p.Glu902Gln) rs373951714 0.00002
NM_002691.4(POLD1):c.2983C>T (p.Leu995Phe) rs773795511 0.00002
NM_002691.4(POLD1):c.2989G>A (p.Gly997Ser) rs368319533 0.00002
NM_002691.4(POLD1):c.481A>T (p.Met161Leu) rs763969133 0.00002
NM_002691.4(POLD1):c.16C>T (p.Arg6Trp) rs55955638 0.00001
NM_002691.4(POLD1):c.1840C>T (p.His614Tyr) rs144277999 0.00001
NM_002691.4(POLD1):c.2066G>A (p.Arg689Gln) rs146530638 0.00001
NM_002691.4(POLD1):c.2327G>A (p.Arg776Gln) rs141801845 0.00001
NM_002691.4(POLD1):c.233G>A (p.Arg78His) rs750825686 0.00001
NM_002691.4(POLD1):c.2803G>A (p.Ala935Thr) rs555452657 0.00001
NM_002691.4(POLD1):c.2933G>A (p.Arg978His) rs371628260 0.00001
NM_002691.4(POLD1):c.3197A>G (p.His1066Arg) rs762828545 0.00001
NM_002691.4(POLD1):c.325C>G (p.Gln109Glu) rs1334973313 0.00001
NM_002691.4(POLD1):c.3292C>T (p.Arg1098Cys) rs1445817375 0.00001
NM_002691.4(POLD1):c.497G>A (p.Arg166Gln) rs750144413 0.00001
NM_002691.4(POLD1):c.583C>T (p.Arg195Ter) rs377690809 0.00001
NM_002691.4(POLD1):c.644C>T (p.Ala215Val) rs993539085 0.00001
NM_002691.4(POLD1):c.781G>A (p.Val261Ile) rs765448811 0.00001
NM_002691.4(POLD1):c.992G>A (p.Arg331Gln) rs371120096 0.00001
NM_002691.4(POLD1):c.1114G>A (p.Glu372Lys) rs960226186
NM_002691.4(POLD1):c.1138-3C>A rs200072694
NM_002691.4(POLD1):c.1168C>T (p.Pro390Ser) rs2038747136
NM_002691.4(POLD1):c.1243-11CTC[2] rs760329559
NM_002691.4(POLD1):c.126G>C (p.Glu42Asp) rs993203717
NM_002691.4(POLD1):c.1776-53G>A
NM_002691.4(POLD1):c.190G>C (p.Gly64Arg) rs2122197687
NM_002691.4(POLD1):c.1933G>A (p.Glu645Lys) rs1161281976
NM_002691.4(POLD1):c.242G>C (p.Arg81Pro) rs755461109
NM_002691.4(POLD1):c.2443TCC[1] (p.Ser816del) rs763850764
NM_002691.4(POLD1):c.2560G>A (p.Asp854Asn) rs373650022
NM_002691.4(POLD1):c.2656_2657delinsTT (p.Glu886Leu) rs1568637923
NM_002691.4(POLD1):c.2686G>A (p.Gly896Ser) rs370557271
NM_002691.4(POLD1):c.2832C>G (p.Phe944Leu)
NM_002691.4(POLD1):c.3121-6C>G
NM_002691.4(POLD1):c.3170A>G (p.Gln1057Arg) rs768747132
NM_002691.4(POLD1):c.3304C>T (p.Pro1102Ser)
NM_002691.4(POLD1):c.532G>C (p.Gly178Arg) rs140707092
NM_002691.4(POLD1):c.632G>A (p.Arg211His) rs373192520
NM_002691.4(POLD1):c.652C>T (p.Arg218Cys) rs1295943468
NM_002691.4(POLD1):c.77A>G (p.Asp26Gly) rs760939854

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