ClinVar Miner

List of variants in gene XPNPEP3 reported by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 165
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HGVS dbSNP gnomAD frequency
NM_022098.4(XPNPEP3):c.*2629G>A rs2899341 0.55160
NM_022098.4(XPNPEP3):c.*3366C>T rs12168248 0.05737
NM_022098.4(XPNPEP3):c.*3137C>G rs12168140 0.05733
NM_022098.4(XPNPEP3):c.*2958G>A rs9623284 0.05707
NM_022098.4(XPNPEP3):c.*3690G>T rs150218150 0.05556
NM_022098.4(XPNPEP3):c.*4362C>G rs9623286 0.05075
NM_022098.4(XPNPEP3):c.*4586G>A rs9619920 0.04950
NM_022098.4(XPNPEP3):c.*2978G>A rs9623285 0.04861
NM_022098.4(XPNPEP3):c.*467C>T rs12169203 0.04815
NM_022098.4(XPNPEP3):c.*6201A>T rs9917 0.04498
NM_022098.4(XPNPEP3):c.*4561G>A rs9611438 0.03353
NM_022098.4(XPNPEP3):c.*3351C>T rs9611437 0.03348
NM_022098.4(XPNPEP3):c.*4702G>A rs5758133 0.02338
NM_022098.4(XPNPEP3):c.*1607del rs144878138 0.02320
NM_022098.4(XPNPEP3):c.111A>G (p.Pro37=) rs1894658 0.01750
NM_022098.4(XPNPEP3):c.*3003G>A rs8142521 0.01676
NM_022098.4(XPNPEP3):c.*3411T>C rs115221268 0.01309
NM_022098.4(XPNPEP3):c.*2762T>C rs181614337 0.01298
NM_022098.4(XPNPEP3):c.*6055A>C rs73412774 0.00955
NM_022098.4(XPNPEP3):c.*809C>A rs57486044 0.00866
NM_022098.4(XPNPEP3):c.*877A>G rs5995966 0.00707
NM_022098.4(XPNPEP3):c.*5643C>G rs115817476 0.00474
NM_022098.4(XPNPEP3):c.*5327A>C rs141571227 0.00471
NM_022098.4(XPNPEP3):c.590-9C>T rs149370388 0.00467
NM_022098.4(XPNPEP3):c.*3955A>G rs138848856 0.00381
NM_022098.4(XPNPEP3):c.*2611G>T rs144498602 0.00373
NM_022098.4(XPNPEP3):c.*6179G>A rs149909864 0.00253
NM_022098.4(XPNPEP3):c.*4530C>T rs190920816 0.00250
NM_022098.4(XPNPEP3):c.*4990A>G rs146033951 0.00245
NM_022098.4(XPNPEP3):c.*5445G>A rs150740494 0.00243
NM_022098.4(XPNPEP3):c.*1531A>G rs145932052 0.00233
NM_022098.4(XPNPEP3):c.*5547C>G rs191415641 0.00224
NM_022098.4(XPNPEP3):c.*531T>G rs564294482 0.00197
NM_022098.4(XPNPEP3):c.590-8A>G rs143719656 0.00156
NM_022098.4(XPNPEP3):c.1477C>G (p.Pro493Ala) rs146023695 0.00155
NM_022098.4(XPNPEP3):c.*5106T>G rs1198807029 0.00128
NM_022098.4(XPNPEP3):c.*5742A>G rs771253606 0.00106
NM_022098.4(XPNPEP3):c.*1076C>A rs150795967 0.00097
NM_022098.4(XPNPEP3):c.*1876A>G rs555560884 0.00090
NM_022098.4(XPNPEP3):c.*2011A>G rs564396179 0.00086
NM_022098.4(XPNPEP3):c.817A>G (p.Ser273Gly) rs138501598 0.00085
NM_022098.4(XPNPEP3):c.*3698G>T rs376352212 0.00082
NM_022098.4(XPNPEP3):c.63A>G (p.Ser21=) rs139991468 0.00072
NM_022098.4(XPNPEP3):c.*4614A>G rs560735914 0.00066
NM_022098.4(XPNPEP3):c.970-9T>C rs117568682 0.00066
NM_022098.4(XPNPEP3):c.*1265C>T rs548264406 0.00058
NM_022098.4(XPNPEP3):c.*2536C>G rs747423050 0.00054
NM_022098.4(XPNPEP3):c.1244G>A (p.Arg415Gln) rs79385822 0.00051
NM_022098.3(XPNPEP3):c.-44C>T rs374129317 0.00041
NM_022098.4(XPNPEP3):c.-23C>T rs149610579 0.00038
NM_022098.4(XPNPEP3):c.*1249T>C rs886057517 0.00036
NM_022098.4(XPNPEP3):c.*1161C>G rs764840110 0.00029
NM_022098.4(XPNPEP3):c.*150T>G rs138316056 0.00023
NM_022098.4(XPNPEP3):c.*419A>T rs749468351 0.00020
NM_022098.4(XPNPEP3):c.*1222dup rs886057515 0.00019
NM_022098.4(XPNPEP3):c.*1241_*1242insA rs577143989 0.00019
NM_022098.4(XPNPEP3):c.*6105G>A rs183787483 0.00019
NM_022098.4(XPNPEP3):c.597G>A (p.Thr199=) rs151167805 0.00019
NM_022098.4(XPNPEP3):c.*1394C>T rs570854426 0.00015
NM_022098.4(XPNPEP3):c.*1830G>A rs950650459 0.00014
NM_022098.4(XPNPEP3):c.*2649A>G rs554227485 0.00014
NM_022098.4(XPNPEP3):c.*4216C>T rs189664696 0.00014
NM_022098.4(XPNPEP3):c.*1696G>A rs886057521 0.00013
NM_022098.4(XPNPEP3):c.*2779C>T rs886057532 0.00012
NM_022098.4(XPNPEP3):c.1516G>A (p.Ala506Thr) rs139592817 0.00012
NM_022098.4(XPNPEP3):c.718A>T (p.Ile240Leu) rs137859412 0.00012
NM_022098.4(XPNPEP3):c.*1162G>A rs1411643653 0.00011
NM_022098.4(XPNPEP3):c.*3112T>C rs754930334 0.00011
NM_022098.4(XPNPEP3):c.*700G>A rs576978422 0.00011
NM_022098.4(XPNPEP3):c.*2406C>T rs189640184 0.00010
NM_022098.4(XPNPEP3):c.*3308T>C rs752736099 0.00010
NM_022098.4(XPNPEP3):c.*5410G>A rs886057544 0.00010
NM_022098.4(XPNPEP3):c.*1964G>T rs184334715 0.00009
NM_022098.4(XPNPEP3):c.388C>G (p.Pro130Ala) rs199693203 0.00009
NM_022098.4(XPNPEP3):c.792+13T>C rs376777685 0.00009
NM_022098.4(XPNPEP3):c.*4198G>A rs888693742 0.00008
NM_022098.4(XPNPEP3):c.*637C>T rs886057512 0.00008
NM_022098.4(XPNPEP3):c.*1798C>T rs886057524 0.00007
NM_022098.4(XPNPEP3):c.*2860G>A rs886057533 0.00007
NM_022098.4(XPNPEP3):c.1313G>A (p.Arg438His) rs766361465 0.00007
NM_022098.4(XPNPEP3):c.263A>G (p.Gln88Arg) rs753043524 0.00007
NM_022098.3(XPNPEP3):c.-87C>T rs886057506 0.00006
NM_022098.4(XPNPEP3):c.*1452A>G rs553717950 0.00006
NM_022098.4(XPNPEP3):c.*4227C>T rs574241355 0.00006
NM_022098.4(XPNPEP3):c.*3194G>A rs1013043091 0.00005
NM_022098.4(XPNPEP3):c.856-2A>G rs149609214 0.00005
NM_022098.4(XPNPEP3):c.*3238A>G rs886057536 0.00004
NM_022098.4(XPNPEP3):c.*3756A>G rs924527994 0.00004
NM_022098.4(XPNPEP3):c.1049A>G (p.Asn350Ser) rs768828532 0.00004
NM_022098.4(XPNPEP3):c.*1205C>T rs886057514 0.00003
NM_022098.4(XPNPEP3):c.*1376C>G rs891838286 0.00003
NM_022098.4(XPNPEP3):c.*3542A>G rs766458439 0.00003
NM_022098.4(XPNPEP3):c.*5508T>G rs886057545 0.00003
NM_022098.4(XPNPEP3):c.*5649C>T rs886057547 0.00003
NM_022098.4(XPNPEP3):c.1188T>C (p.Leu396=) rs146309087 0.00003
NM_022098.4(XPNPEP3):c.969+6T>C rs371875441 0.00003
NM_022098.4(XPNPEP3):c.*1427G>A rs886057518 0.00002
NM_022098.4(XPNPEP3):c.*1449A>G rs886057519 0.00002
NM_022098.4(XPNPEP3):c.*1803dup rs886057525 0.00002
NM_022098.4(XPNPEP3):c.*3840G>A rs886057540 0.00002
NM_022098.4(XPNPEP3):c.*4158A>G rs1244245399 0.00002
NM_022098.4(XPNPEP3):c.891T>G (p.Ile297Met) rs746834434 0.00002
NM_022098.4(XPNPEP3):c.*1996T>G rs1035521302 0.00001
NM_022098.4(XPNPEP3):c.*2627C>T rs886057527 0.00001
NM_022098.4(XPNPEP3):c.*2768T>C rs886057531 0.00001
NM_022098.4(XPNPEP3):c.*3706T>G rs2058249701 0.00001
NM_022098.4(XPNPEP3):c.*3973C>T rs1037261895 0.00001
NM_022098.4(XPNPEP3):c.*4260T>A rs886057542 0.00001
NM_022098.4(XPNPEP3):c.*4588A>G rs778774318 0.00001
NM_022098.4(XPNPEP3):c.*5641T>C rs530025506 0.00001
NM_022098.4(XPNPEP3):c.1085A>C (p.Glu362Ala) rs147185156 0.00001
NM_022098.4(XPNPEP3):c.112G>A (p.Glu38Lys) rs1471773793 0.00001
NM_022098.4(XPNPEP3):c.1236+9C>T rs778161054 0.00001
NM_022098.3(XPNPEP3):c.-41C>A rs372922784
NM_022098.4(XPNPEP3):c.*1050TAAA[2] rs541372877
NM_022098.4(XPNPEP3):c.*114G>A rs886057510
NM_022098.4(XPNPEP3):c.*1246G>A rs886057516
NM_022098.4(XPNPEP3):c.*1301G>A rs185173339
NM_022098.4(XPNPEP3):c.*1439C>A rs897284135
NM_022098.4(XPNPEP3):c.*1458G>A rs886057520
NM_022098.4(XPNPEP3):c.*1470A>C rs530322352
NM_022098.4(XPNPEP3):c.*1557C>G rs1054673055
NM_022098.4(XPNPEP3):c.*1763del rs886057522
NM_022098.4(XPNPEP3):c.*1765dup rs1555892276
NM_022098.4(XPNPEP3):c.*2042G>A rs886057526
NM_022098.4(XPNPEP3):c.*2175C>T rs1569035427
NM_022098.4(XPNPEP3):c.*2312G>A rs2058244420
NM_022098.4(XPNPEP3):c.*2630C>T rs886057528
NM_022098.4(XPNPEP3):c.*2747CTTTT[2] rs886057529
NM_022098.4(XPNPEP3):c.*2774dup rs575824982
NM_022098.4(XPNPEP3):c.*2881C>G rs9623283
NM_022098.4(XPNPEP3):c.*2881C>T rs9623283
NM_022098.4(XPNPEP3):c.*2929dup rs531134116
NM_022098.4(XPNPEP3):c.*2C>T rs149716028
NM_022098.4(XPNPEP3):c.*3046G>A rs886057535
NM_022098.4(XPNPEP3):c.*3298C>T rs886057537
NM_022098.4(XPNPEP3):c.*3618A>G rs747079119
NM_022098.4(XPNPEP3):c.*3673del rs886057538
NM_022098.4(XPNPEP3):c.*3673dup rs886057538
NM_022098.4(XPNPEP3):c.*37T>C rs2058235224
NM_022098.4(XPNPEP3):c.*390A>G rs142395135
NM_022098.4(XPNPEP3):c.*4152dup rs546404938
NM_022098.4(XPNPEP3):c.*4166A>G rs1291419529
NM_022098.4(XPNPEP3):c.*4645C>G rs183511610
NM_022098.4(XPNPEP3):c.*4789C>T rs2058253616
NM_022098.4(XPNPEP3):c.*5096T>G rs886057543
NM_022098.4(XPNPEP3):c.*5162C>G rs2058254905
NM_022098.4(XPNPEP3):c.*5294C>T rs2058255381
NM_022098.4(XPNPEP3):c.*5631C>T rs886057546
NM_022098.4(XPNPEP3):c.*5656G>A rs2058256756
NM_022098.4(XPNPEP3):c.*5729A>G rs1470774653
NM_022098.4(XPNPEP3):c.*5915del rs61410755
NM_022098.4(XPNPEP3):c.*5915dup rs61410755
NM_022098.4(XPNPEP3):c.*6164G>C rs886057549
NM_022098.4(XPNPEP3):c.*6178C>G rs193116004
NM_022098.4(XPNPEP3):c.*635C>T rs886057511
NM_022098.4(XPNPEP3):c.*85G>T rs886057509
NM_022098.4(XPNPEP3):c.*869T>A rs2058237749
NM_022098.4(XPNPEP3):c.*995T>C rs2058238193
NM_022098.4(XPNPEP3):c.-28C>G rs369687517
NM_022098.4(XPNPEP3):c.1055+15G>A rs5995965
NM_022098.4(XPNPEP3):c.1140C>T (p.Ser380=) rs886057507
NM_022098.4(XPNPEP3):c.1376A>G (p.Asp459Gly) rs1715106644
NM_022098.4(XPNPEP3):c.1503G>A (p.Gln501=) rs886057508
NM_022098.4(XPNPEP3):c.970-8T>C rs547747361

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