ClinVar Miner

List of variants in gene POLD1 reported by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_002691.4(POLD1):c.2718-12A>G rs3219433 0.49249
NM_002691.4(POLD1):c.1275C>T (p.Ala425=) rs3219392 0.00486
NM_002691.4(POLD1):c.783C>T (p.Val261=) rs34269084 0.00296
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.378C>T (p.Arg126=) rs145324823 0.00188
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.2979G>A (p.Thr993=) rs3218774 0.00112
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.612C>T (p.His204=) rs147881471 0.00083
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.1665C>T (p.Val555=) rs150238541 0.00053
NM_002691.4(POLD1):c.2103C>T (p.Tyr701=) rs201483538 0.00046
NM_002691.4(POLD1):c.2052G>C (p.Gln684His) rs144143245 0.00045
NM_002691.4(POLD1):c.653G>A (p.Arg218His) rs150010804 0.00045
NM_002691.4(POLD1):c.13C>T (p.Arg5Trp) rs9282830 0.00038
NM_002691.4(POLD1):c.714G>A (p.Thr238=) rs149096523 0.00030
NM_002691.4(POLD1):c.885G>C (p.Val295=) rs201946114 0.00024
NM_002691.4(POLD1):c.2017G>A (p.Glu673Lys) rs61751955 0.00018
NM_002691.4(POLD1):c.2337G>A (p.Ala779=) rs147108748 0.00016
NM_002691.4(POLD1):c.1017G>T (p.Ser339=) rs373404887 0.00013
NM_002691.4(POLD1):c.2727G>A (p.Lys909=) rs753176146 0.00013
NM_002691.4(POLD1):c.2100A>G (p.Val700=) rs772468675 0.00009
NM_002691.4(POLD1):c.1686+10C>T rs372652150 0.00008
NM_002691.4(POLD1):c.1504G>A (p.Asp502Asn) rs777866589 0.00004
NM_002691.4(POLD1):c.2250+7G>A rs775363857 0.00004
NM_002691.4(POLD1):c.257C>T (p.Ala86Val) rs148040399 0.00004
NM_002691.4(POLD1):c.811G>A (p.Gly271Arg) rs923485004 0.00004
NM_002691.4(POLD1):c.784G>A (p.Gly262Ser) rs571623032 0.00003
NM_002691.4(POLD1):c.1174G>A (p.Val392Met) rs778843530 0.00002
NM_002691.4(POLD1):c.202G>A (p.Gly68Arg) rs772866918 0.00002
NM_002691.4(POLD1):c.1054C>T (p.Arg352Cys) rs762330164 0.00001
NM_002691.4(POLD1):c.2372G>A (p.Arg791Gln) rs1174011798 0.00001
NM_002691.4(POLD1):c.2388+3G>A rs765678563 0.00001
NM_002691.4(POLD1):c.2781C>T (p.Ile927=) rs1429621911 0.00001
NM_002691.4(POLD1):c.2787C>T (p.Ala929=) rs1057522848 0.00001
NM_002691.4(POLD1):c.2833G>A (p.Val945Met) rs565328583 0.00001
NM_002691.4(POLD1):c.2865G>A (p.Gln955=) rs878854544 0.00001
NM_002691.4(POLD1):c.3006C>T (p.Leu1002=) rs759600947 0.00001
NM_002691.4(POLD1):c.917G>A (p.Arg306His) rs781682472 0.00001
NM_002691.4(POLD1):c.1059G>A (p.Leu353=) rs1601204466
NM_002691.4(POLD1):c.1114G>A (p.Glu372Lys) rs960226186
NM_002691.4(POLD1):c.1321A>T (p.Thr441Ser) rs1601215588
NM_002691.4(POLD1):c.1756G>A (p.Val586Ile) rs1601221294
NM_002691.4(POLD1):c.1932C>T (p.Asp644=) rs80214209
NM_002691.4(POLD1):c.208G>T (p.Val70Phe) rs147911699
NM_002691.4(POLD1):c.2565-7C>T rs2039243107
NM_002691.4(POLD1):c.2960A>C (p.Asp987Ala) rs2122495383
NM_002691.4(POLD1):c.3305del (p.Pro1102fs) rs761614971
NM_002691.4(POLD1):c.410_413del (p.Val137fs) rs2038649098

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