ClinVar Miner

List of variants in gene POLD1 reported as benign by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_002691.4(POLD1):c.2953+12C>T rs3218776 0.55791
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.3218+9C>T rs3219448 0.00727
NM_002691.4(POLD1):c.88C>T (p.Arg30Trp) rs3218772 0.00706
NM_002691.4(POLD1):c.2546G>A (p.Arg849His) rs3218775 0.00670
NM_002691.4(POLD1):c.1275C>T (p.Ala425=) rs3219392 0.00486
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.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.33C>T (p.Pro11=) rs3218768 0.00109
NM_002691.4(POLD1):c.1620C>T (p.Gly540=) rs140216790 0.00098
NM_002691.4(POLD1):c.2628C>T (p.Ile876=) rs75874199 0.00088
NM_002691.4(POLD1):c.1665C>T (p.Val555=) rs150238541 0.00053
NM_002691.4(POLD1):c.2955G>T (p.Arg985=) rs770495723 0.00019
NM_002691.4(POLD1):c.324G>T (p.Ala108=) rs20582

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