ClinVar Miner

List of variants in gene POLD1 reported by Mendelics

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Total variants: 64
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HGVS dbSNP gnomAD frequency
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.2967G>A (p.Thr989=) rs3218752 0.00142
NM_002691.4(POLD1):c.2577C>T (p.Gly859=) rs149366027 0.00140
NM_002691.4(POLD1):c.2007-4G>A rs202035484 0.00135
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.1620C>T (p.Gly540=) rs140216790 0.00098
NM_002691.4(POLD1):c.455C>T (p.Ala152Val) rs41563714 0.00062
NM_002691.4(POLD1):c.883G>A (p.Val295Met) rs199545019 0.00060
NM_002691.4(POLD1):c.1138-8A>G rs41544624 0.00056
NM_002691.4(POLD1):c.2052G>C (p.Gln684His) rs144143245 0.00045
NM_002691.4(POLD1):c.1092G>C (p.Leu364=) rs139883454 0.00034
NM_002691.4(POLD1):c.714G>A (p.Thr238=) rs149096523 0.00030
NM_002691.4(POLD1):c.961G>A (p.Gly321Ser) rs41554817 0.00029
NM_002691.4(POLD1):c.1795G>A (p.Ala599Thr) rs149569984 0.00027
NM_002691.4(POLD1):c.2007-5C>T rs199506387 0.00019
NM_002691.4(POLD1):c.2337G>A (p.Ala779=) rs147108748 0.00016
NM_002691.4(POLD1):c.353C>T (p.Ser118Phe) rs780604625 0.00016
NM_002691.4(POLD1):c.432C>T (p.Phe144=) rs550836711 0.00011
NM_002691.4(POLD1):c.521G>A (p.Arg174Gln) rs141976385 0.00011
NM_002691.4(POLD1):c.2987C>T (p.Thr996Met) rs918661445 0.00010
NM_002691.4(POLD1):c.1182C>T (p.Thr394=) rs377462923 0.00009
NM_002691.4(POLD1):c.1596C>T (p.Ala532=) rs550441767 0.00009
NM_002691.4(POLD1):c.2388+5G>A rs750085275 0.00009
NM_002691.4(POLD1):c.3271G>A (p.Asp1091Asn) rs946088822 0.00009
NM_002691.4(POLD1):c.1383+8C>T rs374719944 0.00004
NM_002691.4(POLD1):c.3016G>A (p.Ala1006Thr) rs376197467 0.00003
NM_002691.4(POLD1):c.132G>A (p.Met44Ile) rs757575448 0.00002
NM_002691.4(POLD1):c.2155-6C>T rs112481714 0.00002
NM_002691.4(POLD1):c.2565-12G>A rs779262089 0.00002
NM_002691.4(POLD1):c.3157C>T (p.Arg1053Cys) rs779208942 0.00002
NM_002691.4(POLD1):c.1289A>G (p.Asn430Ser) rs546554950 0.00001
NM_002691.4(POLD1):c.1635C>T (p.Tyr545=) rs1057522415 0.00001
NM_002691.4(POLD1):c.197C>G (p.Ala66Gly) rs199792522 0.00001
NM_002691.4(POLD1):c.224T>C (p.Ile75Thr) rs878854534 0.00001
NM_002691.4(POLD1):c.2717+8G>A rs752674105 0.00001
NM_002691.4(POLD1):c.3120+6A>G rs1231856737 0.00001
NM_002691.4(POLD1):c.317-5C>T rs768082423 0.00001
NM_002691.4(POLD1):c.327G>C (p.Gln109His) rs750260438 0.00001
NM_002691.4(POLD1):c.565G>T (p.Ala189Ser) rs761846026 0.00001
NM_002691.4(POLD1):c.613G>A (p.Gly205Ser) rs914238978 0.00001
NM_002691.4(POLD1):c.674G>A (p.Arg225His) rs144979965 0.00001
NM_002691.4(POLD1):c.1109G>T (p.Ser370Ile) rs868850526
NM_002691.4(POLD1):c.1492C>T (p.Gln498Ter) rs1240526196
NM_002691.4(POLD1):c.1686+43G>T rs201197467
NM_002691.4(POLD1):c.1687-2A>G rs1568628299
NM_002691.4(POLD1):c.189G>T (p.Glu63Asp) rs776773005
NM_002691.4(POLD1):c.19C>T (p.Pro7Ser) rs2122193847
NM_002691.4(POLD1):c.208G>T (p.Val70Phe) rs147911699
NM_002691.4(POLD1):c.2155-5G>A rs891420901
NM_002691.4(POLD1):c.2157C>T (p.Ser719=) rs760678755
NM_002691.4(POLD1):c.230C>G (p.Pro77Arg) rs1555789213
NM_002691.4(POLD1):c.2449C>G (p.Arg817Gly) rs148176230
NM_002691.4(POLD1):c.278C>T (p.Pro93Leu) rs2122203287
NM_002691.4(POLD1):c.2874G>A (p.Leu958=) rs1568639764
NM_002691.4(POLD1):c.3067+11del rs780881147
NM_002691.4(POLD1):c.3073G>A (p.Val1025Met) rs1060501858
NM_002691.4(POLD1):c.3121-33G>C rs376468859
NM_002691.4(POLD1):c.3293G>T (p.Arg1098Leu) rs878854552
NM_002691.4(POLD1):c.3316G>A (p.Ala1106Thr) rs778990190
NM_002691.4(POLD1):c.536G>T (p.Gly179Val) rs1060501831
NM_002691.4(POLD1):c.657C>T (p.Leu219=) rs777751728
NM_002691.4(POLD1):c.900G>A (p.Pro300=) rs142407935

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