ClinVar Miner

List of variants in gene POLD1 reported as benign by Sema4, Sema4

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Gene type:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_002691.4(POLD1):c.2546G>A (p.Arg849His) rs3218775 0.00670
NM_002691.4(POLD1):c.778A>G (p.Ile260Val) rs8105725 0.00295
NM_002691.4(POLD1):c.1977C>T (p.Ile659=) rs45605236 0.00290
NM_002691.4(POLD1):c.56G>A (p.Arg19His) rs3218773 0.00197
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.2967G>A (p.Thr989=) rs3218752 0.00142
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.1620C>T (p.Gly540=) rs140216790 0.00098
NM_002691.4(POLD1):c.3120+12G>A rs182231620 0.00094
NM_002691.4(POLD1):c.2628C>T (p.Ile876=) rs75874199 0.00088
NM_002691.4(POLD1):c.581C>G (p.Ser194Cys) rs144656348 0.00061
NM_002691.4(POLD1):c.1138-8A>G rs41544624 0.00056
NM_002691.4(POLD1):c.1665C>T (p.Val555=) rs150238541 0.00053
NM_002691.4(POLD1):c.653G>A (p.Arg218His) rs150010804 0.00045
NM_002691.4(POLD1):c.1092G>C (p.Leu364=) rs139883454 0.00034
NM_002691.4(POLD1):c.945C>T (p.Phe315=) rs150116169 0.00034
NM_002691.4(POLD1):c.714G>A (p.Thr238=) rs149096523 0.00030
NM_002691.4(POLD1):c.624G>A (p.Pro208=) rs78996304 0.00025
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.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 0.00009
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.1893-6A>C rs963949260 0.00006
NM_002691.4(POLD1):c.2700C>T (p.His900=) rs769965495 0.00006
NM_002691.4(POLD1):c.651G>A (p.Pro217=) rs199622672 0.00006
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.2718-5C>T rs368965066 0.00004
NM_002691.4(POLD1):c.3204C>T (p.Asp1068=) rs759019419 0.00004
NM_002691.4(POLD1):c.639C>T (p.Thr213=) rs139949679 0.00004
NM_002691.4(POLD1):c.2136G>A (p.Pro712=) rs765207547 0.00002
NM_002691.4(POLD1):c.1560G>A (p.Leu520=) rs200345841 0.00001
NM_002691.4(POLD1):c.2763C>T (p.Arg921=) rs139299266 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.534G>C (p.Gly178=) rs376129517

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