ClinVar Miner

List of variants in gene POLD1 reported as benign by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 33
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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 0.49249
NM_002691.4(POLD1):c.463+8G>T rs1726802 0.13898
NM_002691.4(POLD1):c.356G>A (p.Arg119His) rs1726801 0.13815
NM_002691.4(POLD1):c.810T>C (p.Ala270=) rs1143666 0.12250
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 0.09769
NM_002691.4(POLD1):c.3121-19C>T rs3212330 0.09350
NM_002691.4(POLD1):c.1548C>T (p.Ala516=) rs2230247 0.04514
NM_002691.4(POLD1):c.1539G>A (p.Leu513=) rs2230246 0.04513
NM_002691.4(POLD1):c.1860G>A (p.Thr620=) rs1726790 0.03590
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.518G>A (p.Ser173Asn) rs1726803 0.03166
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 0.00706
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.433G>A (p.Ala145Thr) rs137953986 0.00253
NM_002691.4(POLD1):c.56G>A (p.Arg19His) rs3218773 0.00197
NM_002691.4(POLD1):c.80A>T (p.Asp27Val) rs150066950 0.00159
NM_002691.4(POLD1):c.33C>T (p.Pro11=) rs3218768 0.00109
NM_002691.4(POLD1):c.2628C>T (p.Ile876=) rs75874199 0.00088
NM_002691.4(POLD1):c.324G>A (p.Ala108=) rs20582

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