ClinVar Miner

List of variants in gene POLD1 reported as likely benign by Mendelics

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Gene type:
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Total variants: 35
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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.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.1182C>T (p.Thr394=) rs377462923 0.00009
NM_002691.4(POLD1):c.1596C>T (p.Ala532=) rs550441767 0.00009
NM_002691.4(POLD1):c.1383+8C>T rs374719944 0.00004
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.1635C>T (p.Tyr545=) rs1057522415 0.00001
NM_002691.4(POLD1):c.197C>G (p.Ala66Gly) rs199792522 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.1686+43G>T rs201197467
NM_002691.4(POLD1):c.2155-5G>A rs891420901
NM_002691.4(POLD1):c.2157C>T (p.Ser719=) rs760678755
NM_002691.4(POLD1):c.3067+11del rs780881147
NM_002691.4(POLD1):c.3121-33G>C rs376468859
NM_002691.4(POLD1):c.657C>T (p.Leu219=) rs777751728
NM_002691.4(POLD1):c.900G>A (p.Pro300=) rs142407935

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