ClinVar Miner

List of variants in gene POLD1 reported as benign for Hereditary cancer-predisposing syndrome

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Gene type:
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Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_002691.4(POLD1):c.2953+12C>T rs3218776 0.55791
NM_002691.4(POLD1):c.2718-12A>G rs3219433 0.49078
NM_002691.4(POLD1):c.463+8G>T rs1726802 0.13968
NM_002691.4(POLD1):c.356G>A (p.Arg119His) rs1726801 0.13896
NM_002691.4(POLD1):c.810T>C (p.Ala270=) rs1143666 0.11577
NM_002691.4(POLD1):c.3218+10A>G rs2463239 0.11362
NM_002691.4(POLD1):c.2244T>C (p.Ser748=) rs1274607 0.10634
NM_002691.4(POLD1):c.1485C>T (p.Thr495=) rs2230245 0.09780
NM_002691.4(POLD1):c.3121-19C>T rs3212330 0.08915
NM_002691.4(POLD1):c.1539G>A (p.Leu513=) rs2230246 0.04513
NM_002691.4(POLD1):c.1548C>T (p.Ala516=) rs2230247 0.04204
NM_002691.4(POLD1):c.971-12C>T rs1673044 0.03582
NM_002691.4(POLD1):c.234C>G (p.Arg78=) rs2228665 0.03571
NM_002691.4(POLD1):c.1860G>A (p.Thr620=) rs1726790 0.03334
NM_002691.4(POLD1):c.518G>A (p.Ser173Asn) rs1726803 0.02952
NM_002691.4(POLD1):c.1173C>T (p.Asp391=) rs2230244 0.02764
NM_002691.4(POLD1):c.463+9C>T rs1673046 0.02570
NM_002691.4(POLD1):c.2154+13_2154+14insA rs3218767 0.02057
NM_002691.4(POLD1):c.1713C>T (p.Pro571=) rs2230248 0.01698
NM_002691.4(POLD1):c.2862G>C (p.Thr954=) rs3219440 0.01109
NM_002691.4(POLD1):c.849G>T (p.Gln283His) rs113282414 0.01085
NM_002691.4(POLD1):c.1761C>T (p.Ile587=) rs3218755 0.00976
NM_002691.4(POLD1):c.88C>T (p.Arg30Trp) rs3218772 0.00717
NM_002691.4(POLD1):c.2546G>A (p.Arg849His) rs3218775 0.00649
NM_002691.4(POLD1):c.1275C>T (p.Ala425=) rs3219392 0.00452
NM_002691.4(POLD1):c.1977C>T (p.Ile659=) rs45605236 0.00290
NM_002691.4(POLD1):c.778A>G (p.Ile260Val) rs8105725 0.00275
NM_002691.4(POLD1):c.433G>A (p.Ala145Thr) rs137953986 0.00253
NM_002691.4(POLD1):c.56G>A (p.Arg19His) rs3218773 0.00197
NM_002691.4(POLD1):c.378C>T (p.Arg126=) rs145324823 0.00188
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.971-4G>A rs200144991 0.00152
NM_002691.4(POLD1):c.2628C>T (p.Ile876=) rs75874199 0.00147
NM_002691.4(POLD1):c.2967G>A (p.Thr989=) rs3218752 0.00143
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.33C>T (p.Pro11=) rs3218768 0.00109
NM_002691.4(POLD1):c.1620C>T (p.Gly540=) rs140216790 0.00098
NM_002691.4(POLD1):c.3120+12G>A rs182231620 0.00094
NM_002691.4(POLD1):c.455C>T (p.Ala152Val) rs41563714 0.00061
NM_002691.4(POLD1):c.581C>G (p.Ser194Cys) rs144656348 0.00061
NM_002691.4(POLD1):c.1665C>T (p.Val555=) rs150238541 0.00058
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.653G>A (p.Arg218His) rs150010804 0.00042
NM_002691.4(POLD1):c.1932C>G (p.Asp644Glu) rs80214209 0.00041
NM_002691.4(POLD1):c.945C>T (p.Phe315=) rs150116169 0.00035
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.3257G>A (p.Arg1086Gln) rs3219457 0.00025
NM_002691.4(POLD1):c.624G>A (p.Pro208=) rs78996304 0.00025
NM_002691.4(POLD1):c.2007-5C>T rs199506387 0.00017
NM_002691.4(POLD1):c.2337G>A (p.Ala779=) rs147108748 0.00016
NM_002691.4(POLD1):c.1243-14C>G rs3218762 0.00015
NM_002691.4(POLD1):c.645G>A (p.Ala215=) rs377058651 0.00011
NM_002691.4(POLD1):c.102C>T (p.Phe34=) rs754716741 0.00010
NM_002691.4(POLD1):c.1182C>T (p.Thr394=) rs377462923 0.00010
NM_002691.4(POLD1):c.55C>T (p.Arg19Cys) rs368033860 0.00009
NM_002691.4(POLD1):c.1062G>A (p.Ala354=) rs758535338 0.00007
NM_002691.4(POLD1):c.1503C>T (p.Asn501=) rs371647100 0.00007
NM_002691.4(POLD1):c.713C>T (p.Thr238Met) rs553342844 0.00007
NM_002691.4(POLD1):c.1893-6A>C rs963949260 0.00006
NM_002691.4(POLD1):c.2700C>T (p.His900=) rs769965495 0.00006
NM_002691.4(POLD1):c.2718-5C>T rs368965066 0.00006
NM_002691.4(POLD1):c.651G>A (p.Pro217=) rs199622672 0.00006
NM_002691.4(POLD1):c.639C>T (p.Thr213=) rs139949679 0.00005
NM_002691.4(POLD1):c.1383+8C>T rs374719944 0.00004
NM_002691.4(POLD1):c.2429C>T (p.Ala810Val) rs765981178 0.00004
NM_002691.4(POLD1):c.3204C>T (p.Asp1068=) rs759019419 0.00004
NM_002691.4(POLD1):c.2136G>A (p.Pro712=) rs765207547 0.00003
NM_002691.4(POLD1):c.2545C>T (p.Arg849Cys) rs759987234 0.00003
NM_002691.4(POLD1):c.1560G>A (p.Leu520=) rs200345841 0.00001
NM_002691.4(POLD1):c.2327G>A (p.Arg776Gln) rs141801845 0.00001
NM_002691.4(POLD1):c.2581G>A (p.Val861Met) rs762113011 0.00001
NM_002691.4(POLD1):c.2763C>T (p.Arg921=) rs139299266 0.00001
NM_002691.4(POLD1):c.872T>C (p.Leu291Pro) rs199999050 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>A (p.Val70Ile) rs147911699
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.2954G>A (p.Arg985Gln) rs749159160
NM_002691.4(POLD1):c.324G>A (p.Ala108=) rs20582
NM_002691.4(POLD1):c.534G>C (p.Gly178=) rs376129517

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