ClinVar Miner

List of variants in gene POLD1 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 78
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HGVS dbSNP gnomAD frequency
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.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.433G>A (p.Ala145Thr) rs137953986 0.00253
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.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.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.883G>A (p.Val295Met) rs199545019 0.00060
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.2103C>T (p.Tyr701=) rs201483538 0.00046
NM_002691.4(POLD1):c.2052G>C (p.Gln684His) rs144143245 0.00045
NM_002691.4(POLD1):c.714G>A (p.Thr238=) rs149096523 0.00030
NM_002691.4(POLD1):c.961G>A (p.Gly321Ser) rs41554817 0.00029
NM_002691.4(POLD1):c.885G>C (p.Val295=) rs201946114 0.00024
NM_002691.4(POLD1):c.2007-5C>T rs199506387 0.00019
NM_002691.4(POLD1):c.2185G>A (p.Glu729Lys) rs200931999 0.00016
NM_002691.4(POLD1):c.2337G>A (p.Ala779=) rs147108748 0.00016
NM_002691.4(POLD1):c.2727G>A (p.Lys909=) rs753176146 0.00013
NM_002691.4(POLD1):c.521G>A (p.Arg174Gln) rs141976385 0.00011
NM_002691.4(POLD1):c.645G>A (p.Ala215=) rs377058651 0.00011
NM_002691.4(POLD1):c.3072C>T (p.Ala1024=) rs111698572 0.00010
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.187G>A (p.Glu63Lys) rs200736325 0.00009
NM_002691.4(POLD1):c.2100A>G (p.Val700=) rs772468675 0.00009
NM_002691.4(POLD1):c.1062G>A (p.Ala354=) rs758535338 0.00007
NM_002691.4(POLD1):c.2802C>T (p.Ala934=) rs762628311 0.00006
NM_002691.4(POLD1):c.1322C>T (p.Thr441Met) rs376711125 0.00005
NM_002691.4(POLD1):c.1893-7A>G rs200049500 0.00005
NM_002691.4(POLD1):c.1040C>T (p.Pro347Leu) rs2230243 0.00004
NM_002691.4(POLD1):c.3015C>T (p.Phe1005=) rs752830545 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.1362C>T (p.Arg454=) rs773075581 0.00003
NM_002691.4(POLD1):c.2169C>T (p.Phe723=) rs753797045 0.00003
NM_002691.4(POLD1):c.2470A>G (p.Met824Val) rs779675467 0.00003
NM_002691.4(POLD1):c.3249G>A (p.Lys1083=) rs760214407 0.00003
NM_002691.4(POLD1):c.531C>T (p.Arg177=) rs150702648 0.00003
NM_002691.4(POLD1):c.784G>A (p.Gly262Ser) rs571623032 0.00003
NM_002691.4(POLD1):c.1872C>T (p.Pro624=) rs200649908 0.00002
NM_002691.4(POLD1):c.1281T>G (p.Leu427=) rs754552596 0.00001
NM_002691.4(POLD1):c.1419G>A (p.Thr473=) rs763643495 0.00001
NM_002691.4(POLD1):c.203G>A (p.Gly68Glu) rs144707871 0.00001
NM_002691.4(POLD1):c.2097C>T (p.Ser699=) rs748871980 0.00001
NM_002691.4(POLD1):c.2163G>A (p.Thr721=) rs763876339 0.00001
NM_002691.4(POLD1):c.2300C>T (p.Ser767Leu) rs556196668 0.00001
NM_002691.4(POLD1):c.2685C>T (p.Ala895=) rs768990776 0.00001
NM_002691.4(POLD1):c.273A>G (p.Thr91=) rs745850676 0.00001
NM_002691.4(POLD1):c.2787C>T (p.Ala929=) rs1057522848 0.00001
NM_002691.4(POLD1):c.2821-5C>T rs1057521374 0.00001
NM_002691.4(POLD1):c.583C>T (p.Arg195Ter) rs377690809 0.00001
NM_002691.4(POLD1):c.894C>T (p.His298=) rs1442547881 0.00001
NM_002691.4(POLD1):c.960C>T (p.Ala320=) rs761783513 0.00001
NM_002691.4(POLD1):c.1776-57G>A
NM_002691.4(POLD1):c.1776-82A>T
NM_002691.4(POLD1):c.1893C>G (p.Gly631=) rs774216194
NM_002691.4(POLD1):c.2036A>T (p.Asp679Val)
NM_002691.4(POLD1):c.208G>T (p.Val70Phe) rs147911699
NM_002691.4(POLD1):c.2322G>C (p.Leu774=) rs1014694704
NM_002691.4(POLD1):c.2428G>A (p.Ala810Thr) rs760358465
NM_002691.4(POLD1):c.2629G>A (p.Asp877Asn) rs1555793039
NM_002691.4(POLD1):c.3051A>G (p.Thr1017=) rs2039310658
NM_002691.4(POLD1):c.3102T>G (p.Ser1034=)
NM_002691.4(POLD1):c.3288G>T (p.Leu1096=) rs1043079706
NM_002691.4(POLD1):c.474del (p.Glu159fs) rs752495905
NM_002691.4(POLD1):c.534G>A (p.Gly178=) rs376129517
NM_002691.4(POLD1):c.632G>A (p.Arg211His) rs373192520
NM_002691.4(POLD1):c.840+4C>T rs780257283

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