ClinVar Miner

List of variants in gene DEPDC5 studied for Inborn genetic diseases

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Gene type:
ClinVar version:
Total variants: 201
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HGVS dbSNP gnomAD frequency
NM_001242896.3(DEPDC5):c.1323A>C (p.Thr441=) rs5998135 0.11421
NM_001242896.3(DEPDC5):c.1472G>C (p.Ser491Thr) rs8138516 0.03859
NM_001242896.3(DEPDC5):c.885A>G (p.Gln295=) rs16989495 0.03316
NM_001242896.3(DEPDC5):c.1922C>T (p.Ala641Val) rs16989528 0.02752
NM_001242896.3(DEPDC5):c.1095T>C (p.Asp365=) rs79070552 0.02578
NM_001242896.3(DEPDC5):c.2241C>G (p.Leu747=) rs16989537 0.02410
NM_001242896.3(DEPDC5):c.2135C>T (p.Ser712Phe) rs16989535 0.02396
NM_001242896.3(DEPDC5):c.3358A>G (p.Met1120Val) rs61731662 0.02356
NM_001242896.3(DEPDC5):c.1165C>T (p.Arg389Cys) rs41311139 0.01988
NM_001242896.3(DEPDC5):c.4512C>T (p.His1504=) rs146449468 0.01383
NM_001242896.3(DEPDC5):c.2481G>A (p.Pro827=) rs61731664 0.01330
NM_001242896.3(DEPDC5):c.2742G>A (p.Glu914=) rs118001924 0.01176
NM_001242896.3(DEPDC5):c.2139A>G (p.Leu713=) rs16989536 0.00675
NM_001242896.3(DEPDC5):c.2856T>C (p.Cys952=) rs115299174 0.00386
NM_001242896.3(DEPDC5):c.3810C>T (p.Ala1270=) rs200033252 0.00252
NM_001242896.3(DEPDC5):c.2072T>C (p.Leu691Pro) rs201464790 0.00227
NM_001242896.3(DEPDC5):c.2075C>T (p.Ser692Phe) rs199783404 0.00227
NM_001242896.3(DEPDC5):c.2020C>T (p.Arg674Cys) rs181347577 0.00218
NM_001242896.3(DEPDC5):c.3683T>C (p.Ile1228Thr) rs200653339 0.00200
NM_001242896.3(DEPDC5):c.1321A>G (p.Thr441Ala) rs199749859 0.00162
NM_001242896.3(DEPDC5):c.3265-3C>T rs371377906 0.00108
NM_001242896.3(DEPDC5):c.262A>G (p.Asn88Asp) rs144712084 0.00103
NM_001242896.3(DEPDC5):c.1330G>A (p.Gly444Arg) rs201394709 0.00071
NM_001242896.3(DEPDC5):c.3567A>G (p.Thr1189=) rs142197878 0.00063
NM_001242896.3(DEPDC5):c.3155A>G (p.Lys1052Arg) rs200277794 0.00058
NM_001242896.3(DEPDC5):c.1525C>T (p.Arg509Cys) rs202083639 0.00049
NM_001242896.3(DEPDC5):c.1389C>T (p.Asp463=) rs188147862 0.00039
NM_001242896.3(DEPDC5):c.3315C>T (p.Ser1105=) rs371969641 0.00037
NM_001242896.3(DEPDC5):c.4683C>T (p.Ser1561=) rs370189053 0.00036
NM_001242896.3(DEPDC5):c.1466G>A (p.Ser489Asn) rs200209747 0.00029
NM_001242896.3(DEPDC5):c.748T>G (p.Phe250Val) rs201429774 0.00029
NM_001242896.3(DEPDC5):c.1290C>T (p.Pro430=) rs201202102 0.00027
NM_001242896.3(DEPDC5):c.363+6_363+7del rs748242785 0.00027
NM_001242896.3(DEPDC5):c.3021G>T (p.Arg1007=) rs201690337 0.00024
NM_001242896.3(DEPDC5):c.3312G>A (p.Ser1104=) rs759169213 0.00024
NM_001242896.3(DEPDC5):c.968A>G (p.Asn323Ser) rs201776005 0.00023
NM_001242896.3(DEPDC5):c.2672G>C (p.Ser891Thr) rs185576553 0.00021
NM_001242896.3(DEPDC5):c.1355C>T (p.Ala452Val) rs202226316 0.00020
NM_001242896.3(DEPDC5):c.161A>C (p.Gln54Pro) rs201312113 0.00019
NM_001242896.3(DEPDC5):c.3643G>A (p.Val1215Met) rs201603222 0.00019
NM_001242896.3(DEPDC5):c.4391C>T (p.Thr1464Met) rs556147064 0.00019
NM_001242896.3(DEPDC5):c.3241A>C (p.Thr1081Pro) rs142540948 0.00017
NM_001242896.3(DEPDC5):c.3311C>T (p.Ser1104Leu) rs79027628 0.00016
NM_001242896.3(DEPDC5):c.258T>C (p.Tyr86=) rs201609075 0.00014
NM_001242896.3(DEPDC5):c.2591C>T (p.Thr864Met) rs564667614 0.00014
NM_001242896.3(DEPDC5):c.4689A>G (p.Thr1563=) rs368010039 0.00014
NM_001242896.3(DEPDC5):c.2066A>C (p.Glu689Ala) rs370940232 0.00011
NM_001242896.3(DEPDC5):c.252T>C (p.Asp84=) rs183443533 0.00011
NM_001242896.3(DEPDC5):c.2784C>T (p.Ala928=) rs201146392 0.00011
NM_001242896.3(DEPDC5):c.3054T>C (p.Thr1018=) rs372062387 0.00009
NM_001242896.3(DEPDC5):c.4733A>G (p.Asp1578Gly) rs201347461 0.00009
NM_001242896.3(DEPDC5):c.2034C>T (p.Asp678=) rs779428450 0.00008
NM_001242896.3(DEPDC5):c.233G>C (p.Arg78Pro) rs373578854 0.00008
NM_001242896.3(DEPDC5):c.791G>A (p.Arg264Lys) rs750467533 0.00008
NM_001242896.3(DEPDC5):c.1291G>T (p.Ala431Ser) rs777844378 0.00007
NM_001242896.3(DEPDC5):c.146+5G>A rs748264035 0.00007
NM_001242896.3(DEPDC5):c.2287C>T (p.Arg763Cys) rs745342391 0.00006
NM_001242896.3(DEPDC5):c.3085A>G (p.Thr1029Ala) rs537257402 0.00006
NM_001242896.3(DEPDC5):c.3201C>T (p.Ser1067=) rs775749832 0.00006
NM_001242896.3(DEPDC5):c.5G>A (p.Arg2Lys) rs756142773 0.00006
NM_001242896.3(DEPDC5):c.842A>T (p.Tyr281Phe) rs200797928 0.00006
NM_001242896.3(DEPDC5):c.1153C>T (p.Arg385Trp) rs200020310 0.00005
NM_001242896.3(DEPDC5):c.1758T>C (p.Val586=) rs766732676 0.00005
NM_001242896.3(DEPDC5):c.1278A>G (p.Ala426=) rs376799291 0.00004
NM_001242896.3(DEPDC5):c.1354G>A (p.Ala452Thr) rs768264302 0.00004
NM_001242896.3(DEPDC5):c.1909C>T (p.Arg637Ter) rs780960812 0.00004
NM_001242896.3(DEPDC5):c.2026C>G (p.Pro676Ala) rs199603004 0.00004
NM_001242896.3(DEPDC5):c.2045T>A (p.Phe682Tyr) rs373078069 0.00004
NM_001242896.3(DEPDC5):c.2377A>G (p.Met793Val) rs370318709 0.00004
NM_001242896.3(DEPDC5):c.2486C>T (p.Pro829Leu) rs370487077 0.00004
NM_001242896.3(DEPDC5):c.2904C>T (p.Ile968=) rs200175960 0.00004
NM_001242896.3(DEPDC5):c.3206A>C (p.Gln1069Pro) rs761678944 0.00004
NM_001242896.3(DEPDC5):c.3678G>A (p.Met1226Ile) rs756692170 0.00004
NM_001242896.3(DEPDC5):c.3785C>T (p.Thr1262Met) rs369298689 0.00004
NM_001242896.3(DEPDC5):c.4175C>T (p.Ala1392Val) rs1420107846 0.00004
NM_001242896.3(DEPDC5):c.45C>T (p.Gly15=) rs373199155 0.00004
NM_001242896.3(DEPDC5):c.501G>A (p.Thr167=) rs766360619 0.00004
NM_001242896.3(DEPDC5):c.2004A>G (p.Gly668=) rs374037144 0.00003
NM_001242896.3(DEPDC5):c.2010C>A (p.His670Gln) rs752274547 0.00003
NM_001242896.3(DEPDC5):c.2553G>C (p.Gln851His) rs368375649 0.00003
NM_001242896.3(DEPDC5):c.2704G>A (p.Val902Ile) rs374944205 0.00003
NM_001242896.3(DEPDC5):c.3316G>A (p.Ala1106Thr) rs1247651367 0.00003
NM_001242896.3(DEPDC5):c.3366C>T (p.Asp1122=) rs375702574 0.00003
NM_001242896.3(DEPDC5):c.3871C>T (p.Arg1291Cys) rs202227830 0.00003
NM_001242896.3(DEPDC5):c.4437G>A (p.Arg1479=) rs1057522689 0.00003
NM_001242896.3(DEPDC5):c.944A>G (p.Asn315Ser) rs555944888 0.00003
NM_001242896.3(DEPDC5):c.1416A>G (p.Pro472=) rs930376201 0.00002
NM_001242896.3(DEPDC5):c.2006+3G>A rs752184633 0.00002
NM_001242896.3(DEPDC5):c.2105-4A>G rs888653334 0.00002
NM_001242896.3(DEPDC5):c.2519T>C (p.Leu840Pro) rs746197380 0.00002
NM_001242896.3(DEPDC5):c.3247A>C (p.Met1083Leu) rs768817912 0.00002
NM_001242896.3(DEPDC5):c.4800C>T (p.Ala1600=) rs754017226 0.00002
NM_001242896.3(DEPDC5):c.504G>A (p.Ser168=) rs577652236 0.00002
NM_001242896.3(DEPDC5):c.572A>G (p.Tyr191Cys) rs749809456 0.00002
NM_001242896.3(DEPDC5):c.95A>G (p.His32Arg) rs760541660 0.00002
NM_001242896.3(DEPDC5):c.1011G>A (p.Thr337=) rs1396374516 0.00001
NM_001242896.3(DEPDC5):c.1273C>G (p.Leu425Val) rs2087513191 0.00001
NM_001242896.3(DEPDC5):c.1410C>T (p.Pro470=) rs751143978 0.00001
NM_001242896.3(DEPDC5):c.1663C>T (p.Arg555Ter) rs587776973 0.00001
NM_001242896.3(DEPDC5):c.1664G>A (p.Arg555Gln) rs199688798 0.00001
NM_001242896.3(DEPDC5):c.1674G>A (p.Leu558=) rs199560184 0.00001
NM_001242896.3(DEPDC5):c.1704C>G (p.Asp568Glu) rs1236432902 0.00001
NM_001242896.3(DEPDC5):c.1794T>G (p.Ile598Met) rs918653735 0.00001
NM_001242896.3(DEPDC5):c.2019C>G (p.Ser673=) rs372975881 0.00001
NM_001242896.3(DEPDC5):c.20A>G (p.Tyr7Cys) rs748813142 0.00001
NM_001242896.3(DEPDC5):c.21C>G (p.Tyr7Ter) rs768241563 0.00001
NM_001242896.3(DEPDC5):c.2528G>A (p.Arg843Gln) rs756611357 0.00001
NM_001242896.3(DEPDC5):c.257A>G (p.Tyr86Cys) rs377039864 0.00001
NM_001242896.3(DEPDC5):c.2691A>C (p.Ser897=) rs754142909 0.00001
NM_001242896.3(DEPDC5):c.2731G>A (p.Glu911Lys) rs1214608865 0.00001
NM_001242896.3(DEPDC5):c.2834G>A (p.Arg945His) rs772897391 0.00001
NM_001242896.3(DEPDC5):c.298G>A (p.Val100Met) rs797045522 0.00001
NM_001242896.3(DEPDC5):c.3017T>C (p.Met1006Thr) rs935896142 0.00001
NM_001242896.3(DEPDC5):c.3158G>T (p.Cys1053Phe) rs771407307 0.00001
NM_001242896.3(DEPDC5):c.3272C>T (p.Ala1091Val) rs772812141 0.00001
NM_001242896.3(DEPDC5):c.3515C>A (p.Thr1172Asn) rs865860087 0.00001
NM_001242896.3(DEPDC5):c.3623C>T (p.Ala1208Val) rs772280549 0.00001
NM_001242896.3(DEPDC5):c.3872G>A (p.Arg1291His) rs759266712 0.00001
NM_001242896.3(DEPDC5):c.3911T>A (p.Val1304Glu) rs368558048 0.00001
NM_001242896.3(DEPDC5):c.4096C>T (p.Arg1366Trp) rs1014849515 0.00001
NM_001242896.3(DEPDC5):c.4124A>G (p.His1375Arg) rs1260083367 0.00001
NM_001242896.3(DEPDC5):c.4299C>A (p.Asp1433Glu) rs753759814 0.00001
NM_001242896.3(DEPDC5):c.4354G>A (p.Gly1452Ser) rs1452980660 0.00001
NM_001242896.3(DEPDC5):c.1021G>T (p.Gly341Cys)
NM_001242896.3(DEPDC5):c.1080T>C (p.Asn360=) rs1400775260
NM_001242896.3(DEPDC5):c.1118C>T (p.Pro373Leu)
NM_001242896.3(DEPDC5):c.1148A>G (p.His383Arg)
NM_001242896.3(DEPDC5):c.1169A>T (p.Asp390Val)
NM_001242896.3(DEPDC5):c.1218-1G>A rs2087504321
NM_001242896.3(DEPDC5):c.1234A>T (p.Ser412Cys)
NM_001242896.3(DEPDC5):c.1235G>A (p.Ser412Asn)
NM_001242896.3(DEPDC5):c.1246T>C (p.Cys416Arg) rs1568962734
NM_001242896.3(DEPDC5):c.1269A>G (p.Ile423Met) rs778795541
NM_001242896.3(DEPDC5):c.1274T>C (p.Leu425Pro) rs2148665735
NM_001242896.3(DEPDC5):c.1291G>A (p.Ala431Thr) rs777844378
NM_001242896.3(DEPDC5):c.1310del (p.Asn437fs) rs2088008490
NM_001242896.3(DEPDC5):c.1316G>A (p.Arg439His)
NM_001242896.3(DEPDC5):c.134A>G (p.Asn45Ser)
NM_001242896.3(DEPDC5):c.1477A>C (p.Lys493Gln)
NM_001242896.3(DEPDC5):c.1526G>A (p.Arg509His) rs372489331
NM_001242896.3(DEPDC5):c.1546G>T (p.Val516Leu)
NM_001242896.3(DEPDC5):c.1555C>T (p.Gln519Ter) rs886039261
NM_001242896.3(DEPDC5):c.1964_1965del (p.Ser655fs) rs1372605067
NM_001242896.3(DEPDC5):c.202A>G (p.Ser68Gly)
NM_001242896.3(DEPDC5):c.2055C>A (p.Phe685Leu) rs61731667
NM_001242896.3(DEPDC5):c.2055C>G (p.Phe685Leu) rs61731667
NM_001242896.3(DEPDC5):c.2178A>G (p.Thr726=) rs559312468
NM_001242896.3(DEPDC5):c.2243C>G (p.Thr748Ser) rs1569060315
NM_001242896.3(DEPDC5):c.2288G>T (p.Arg763Leu) rs542384516
NM_001242896.3(DEPDC5):c.2464C>T (p.Pro822Ser) rs781677679
NM_001242896.3(DEPDC5):c.2599G>A (p.Asp867Asn)
NM_001242896.3(DEPDC5):c.2626C>T (p.Leu876Phe)
NM_001242896.3(DEPDC5):c.2732A>C (p.Glu911Ala)
NM_001242896.3(DEPDC5):c.2764G>A (p.Asp922Asn)
NM_001242896.3(DEPDC5):c.2790T>G (p.Ser930=)
NM_001242896.3(DEPDC5):c.2832C>T (p.Thr944=) rs771577027
NM_001242896.3(DEPDC5):c.3155+5G>A
NM_001242896.3(DEPDC5):c.3156-3C>T
NM_001242896.3(DEPDC5):c.3213C>T (p.Ala1071=) rs373166302
NM_001242896.3(DEPDC5):c.3245A>G (p.Tyr1082Cys)
NM_001242896.3(DEPDC5):c.3379G>A (p.Gly1127Ser)
NM_001242896.3(DEPDC5):c.3412A>C (p.Asn1138His)
NM_001242896.3(DEPDC5):c.3480C>T (p.Asp1160=)
NM_001242896.3(DEPDC5):c.3571G>A (p.Val1191Ile)
NM_001242896.3(DEPDC5):c.3715C>T (p.Leu1239Phe) rs2149267051
NM_001242896.3(DEPDC5):c.3724C>T (p.His1242Tyr)
NM_001242896.3(DEPDC5):c.3805+1G>T
NM_001242896.3(DEPDC5):c.3833G>T (p.Trp1278Leu) rs1569185783
NM_001242896.3(DEPDC5):c.3859G>A (p.Ala1287Thr)
NM_001242896.3(DEPDC5):c.3910G>T (p.Val1304Leu) rs750936617
NM_001242896.3(DEPDC5):c.3955C>A (p.Arg1319=)
NM_001242896.3(DEPDC5):c.3964T>A (p.Ser1322Thr)
NM_001242896.3(DEPDC5):c.3965C>G (p.Ser1322Cys)
NM_001242896.3(DEPDC5):c.3994C>T (p.Arg1332Ter) rs886039269
NM_001242896.3(DEPDC5):c.4013G>A (p.Ser1338Asn)
NM_001242896.3(DEPDC5):c.4076A>T (p.Asp1359Val)
NM_001242896.3(DEPDC5):c.4093G>A (p.Asp1365Asn) rs1191285429
NM_001242896.3(DEPDC5):c.4126G>A (p.Gly1376Ser) rs1555929990
NM_001242896.3(DEPDC5):c.4156A>C (p.Ile1386Leu) rs1555930038
NM_001242896.3(DEPDC5):c.4163T>C (p.Leu1388Pro) rs1446980540
NM_001242896.3(DEPDC5):c.4194C>T (p.Leu1398=) rs1449562400
NM_001242896.3(DEPDC5):c.4203+5G>A rs1569224557
NM_001242896.3(DEPDC5):c.4216C>T (p.His1406Tyr)
NM_001242896.3(DEPDC5):c.4219C>T (p.Arg1407Trp)
NM_001242896.3(DEPDC5):c.4251C>T (p.Val1417=)
NM_001242896.3(DEPDC5):c.4287C>G (p.Tyr1429Ter) rs1569232705
NM_001242896.3(DEPDC5):c.4297G>A (p.Asp1433Asn) rs766385762
NM_001242896.3(DEPDC5):c.4367T>A (p.Leu1456Gln)
NM_001242896.3(DEPDC5):c.4567C>T (p.Gln1523Ter) rs797044546
NM_001242896.3(DEPDC5):c.4603A>G (p.Asn1535Asp)
NM_001242896.3(DEPDC5):c.4645G>C (p.Ala1549Pro)
NM_001242896.3(DEPDC5):c.4739G>A (p.Cys1580Tyr) rs776213050
NM_001242896.3(DEPDC5):c.4748G>A (p.Arg1583His) rs2093761069
NM_001242896.3(DEPDC5):c.4759C>T (p.Leu1587=) rs1569256444
NM_001242896.3(DEPDC5):c.484G>C (p.Val162Leu)
NM_001242896.3(DEPDC5):c.547G>A (p.Asp183Asn) rs368985382
NM_001242896.3(DEPDC5):c.793_797del (p.Glu265fs) rs1601925213
NM_001242896.3(DEPDC5):c.829C>T (p.Leu277Phe) rs778656662
NM_001242896.3(DEPDC5):c.864A>C (p.Glu288Asp)
NM_001242896.3(DEPDC5):c.903del (p.Ala302fs)
NM_001242896.3(DEPDC5):c.971G>A (p.Arg324His) rs2087011135

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