ClinVar Miner

List of variants in gene DEPDC5 studied for Epilepsy, familial focal, with variable foci 1

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Total variants: 192
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HGVS dbSNP gnomAD frequency
NM_001242896.3(DEPDC5):c.484-43G>C rs138286 0.97589
NM_001242896.3(DEPDC5):c.1666+214A>C rs5749334 0.62803
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.3265-3C>T rs371377906 0.00108
NM_001242896.3(DEPDC5):c.1330G>A (p.Gly444Arg) rs201394709 0.00071
NM_001242896.3(DEPDC5):c.1525C>T (p.Arg509Cys) rs202083639 0.00049
NM_001242896.3(DEPDC5):c.3092C>A (p.Pro1031His) rs376744360 0.00041
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.3241A>C (p.Thr1081Pro) rs142540948 0.00017
NM_001242896.3(DEPDC5):c.3311C>T (p.Ser1104Leu) rs79027628 0.00016
NM_001242896.3(DEPDC5):c.2591C>T (p.Thr864Met) rs564667614 0.00014
NM_001242896.3(DEPDC5):c.3264+13G>A rs377268492 0.00010
NM_001242896.3(DEPDC5):c.791G>A (p.Arg264Lys) rs750467533 0.00008
NM_001242896.3(DEPDC5):c.2576C>T (p.Thr859Met) rs200744555 0.00007
NM_001242896.3(DEPDC5):c.1408C>T (p.Pro470Ser) rs371312649 0.00006
NM_001242896.3(DEPDC5):c.842A>T (p.Tyr281Phe) rs200797928 0.00006
NM_001242896.3(DEPDC5):c.3217A>C (p.Ser1073Arg) rs754608531 0.00005
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.2045T>A (p.Phe682Tyr) rs373078069 0.00004
NM_001242896.3(DEPDC5):c.2377A>G (p.Met793Val) rs370318709 0.00004
NM_001242896.3(DEPDC5):c.338A>T (p.Asp113Val) rs529069517 0.00004
NM_001242896.3(DEPDC5):c.3461C>T (p.Ser1154Phe) rs578244490 0.00003
NM_001242896.3(DEPDC5):c.4033+5A>G rs886039270 0.00003
NM_001242896.3(DEPDC5):c.4580G>A (p.Arg1527Gln) rs200552561 0.00003
NM_001242896.3(DEPDC5):c.500C>T (p.Thr167Met) rs575683658 0.00003
NM_001242896.3(DEPDC5):c.1960T>C (p.Ser654Pro) rs774477005 0.00002
NM_001242896.3(DEPDC5):c.3002G>A (p.Arg1001His) rs1473617562 0.00002
NM_001242896.3(DEPDC5):c.3836A>G (p.His1279Arg) rs201765981 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.1261C>G (p.Pro421Ala) rs764297665 0.00001
NM_001242896.3(DEPDC5):c.1265G>A (p.Arg422Gln) rs886039277 0.00001
NM_001242896.3(DEPDC5):c.1385A>G (p.Tyr462Cys) rs747546981 0.00001
NM_001242896.3(DEPDC5):c.1454G>A (p.Arg485Gln) rs886039278 0.00001
NM_001242896.3(DEPDC5):c.1459C>T (p.Arg487Ter) rs587777459 0.00001
NM_001242896.3(DEPDC5):c.1460G>A (p.Arg487Gln) rs775080915 0.00001
NM_001242896.3(DEPDC5):c.1663C>T (p.Arg555Ter) rs587776973 0.00001
NM_001242896.3(DEPDC5):c.21C>G (p.Tyr7Ter) rs768241563 0.00001
NM_001242896.3(DEPDC5):c.2507A>G (p.Tyr836Cys) rs773004067 0.00001
NM_001242896.3(DEPDC5):c.2527C>T (p.Arg843Ter) rs541024038 0.00001
NM_001242896.3(DEPDC5):c.2533C>T (p.Arg845Cys) rs780652126 0.00001
NM_001242896.3(DEPDC5):c.268G>A (p.Val90Ile) rs768456731 0.00001
NM_001242896.3(DEPDC5):c.279+3A>G rs1211730596 0.00001
NM_001242896.3(DEPDC5):c.3202G>A (p.Ala1068Thr) rs763158282 0.00001
NM_001242896.3(DEPDC5):c.3293G>A (p.Arg1098His) rs1185705971 0.00001
NM_001242896.3(DEPDC5):c.346C>T (p.Arg116Ter) rs1315483224 0.00001
NM_001242896.3(DEPDC5):c.3515C>A (p.Thr1172Asn) rs865860087 0.00001
NM_001242896.3(DEPDC5):c.373T>C (p.Cys125Arg) rs778986487 0.00001
NM_001242896.3(DEPDC5):c.4097G>A (p.Arg1366Gln) rs1064795095 0.00001
NM_001242896.3(DEPDC5):c.4808C>T (p.Pro1603Leu) rs755174447 0.00001
NM_001242896.3(DEPDC5):c.722C>T (p.Ser241Leu) rs1397187284 0.00001
NC_000022.10:g.(?_32154512)_(32174174_?)del
NC_000022.10:g.32217598_(32218777_32229900)del
NC_000022.11:g.(?_31758526)_(31758653_?)del
NC_000022.11:g.(?_31764955)_(31766688_?)del
NC_000022.11:g.(?_31804142)_(31810661_?)del
NM_001242896.3(DEPDC5):c.1018del (p.Val340fs) rs1601970168
NM_001242896.3(DEPDC5):c.1081+4A>G rs757563918
NM_001242896.3(DEPDC5):c.1093_1099dup (p.Val367fs) rs886039258
NM_001242896.3(DEPDC5):c.1114C>T (p.Gln372Ter) rs886039259
NM_001242896.3(DEPDC5):c.1122del (p.Leu374fs) rs879255234
NM_001242896.3(DEPDC5):c.113T>C (p.Ile38Thr)
NM_001242896.3(DEPDC5):c.1143+2T>C
NM_001242896.3(DEPDC5):c.1218-13_1218-10del rs150103661
NM_001242896.3(DEPDC5):c.1225del (p.Thr409fs)
NM_001242896.3(DEPDC5):c.1264C>T (p.Arg422Ter) rs757511744
NM_001242896.3(DEPDC5):c.1274T>C (p.Leu425Pro) rs2148665735
NM_001242896.3(DEPDC5):c.1277_1280del (p.Ala426fs) rs1568963062
NM_001242896.3(DEPDC5):c.1316G>A (p.Arg439His)
NM_001242896.3(DEPDC5):c.132dup (p.Asn45fs) rs886039244
NM_001242896.3(DEPDC5):c.1390G>A (p.Ala464Thr)
NM_001242896.3(DEPDC5):c.1395dup (p.Val466fs) rs2088167973
NM_001242896.3(DEPDC5):c.1445+1G>A
NM_001242896.3(DEPDC5):c.147-2A>C rs2148027312
NM_001242896.3(DEPDC5):c.1474C>T (p.Arg492Ter) rs1057519107
NM_001242896.3(DEPDC5):c.1555C>T (p.Gln519Ter) rs886039261
NM_001242896.3(DEPDC5):c.1625A>C (p.Gln542Pro) rs886039279
NM_001242896.3(DEPDC5):c.1640G>C (p.Ser547Thr) rs1483477312
NM_001242896.3(DEPDC5):c.1696del (p.Gln566fs) rs2148801285
NM_001242896.3(DEPDC5):c.1725dup (p.His576fs) rs2148801432
NM_001242896.3(DEPDC5):c.1759C>T (p.Arg587Ter) rs886039263
NM_001242896.3(DEPDC5):c.1828C>A (p.Leu610Ile) rs2089444709
NM_001242896.3(DEPDC5):c.1840A>T (p.Arg614Ter)
NM_001242896.3(DEPDC5):c.1891del (p.Gln631fs)
NM_001242896.3(DEPDC5):c.193+1G>A rs886039245
NM_001242896.3(DEPDC5):c.1936dup (p.Ser646fs) rs1569012755
NM_001242896.3(DEPDC5):c.198dup (p.Ile67fs) rs2082694133
NM_001242896.3(DEPDC5):c.2105G>A (p.Gly702Asp)
NM_001242896.3(DEPDC5):c.2242A>G (p.Thr748Ala)
NM_001242896.3(DEPDC5):c.2354+2T>A rs2148953712
NM_001242896.3(DEPDC5):c.2355-2A>G rs797044545
NM_001242896.3(DEPDC5):c.2390del (p.Gln797fs) rs886039264
NM_001242896.3(DEPDC5):c.2500C>G (p.Pro834Ala) rs1569067813
NM_001242896.3(DEPDC5):c.2500C>T (p.Pro834Ser) rs1370595536
NM_001242896.3(DEPDC5):c.2512C>T (p.Arg838Ter) rs1569067939
NM_001242896.3(DEPDC5):c.2516G>T (p.Gly839Val) rs1602349641
NM_001242896.3(DEPDC5):c.2620C>T (p.Arg874Ter) rs578185749
NM_001242896.3(DEPDC5):c.2633+3G>A rs2091504417
NM_001242896.3(DEPDC5):c.2633+9T>G rs2091505022
NM_001242896.3(DEPDC5):c.2666C>T (p.Thr889Ile) rs2149008846
NM_001242896.3(DEPDC5):c.2694_2703delinsGGACA (p.Asp898fs) rs1569083500
NM_001242896.3(DEPDC5):c.2697dup (p.Glu900fs)
NM_001242896.3(DEPDC5):c.2725T>G (p.Ser909Ala)
NM_001242896.3(DEPDC5):c.2734C>T (p.Arg912Trp) rs528863179
NM_001242896.3(DEPDC5):c.2773A>G (p.Ile925Val)
NM_001242896.3(DEPDC5):c.2783C>T (p.Ala928Val) rs1250427988
NM_001242896.3(DEPDC5):c.279+1G>A rs886039246
NM_001242896.3(DEPDC5):c.279+1G>C rs886039246
NM_001242896.3(DEPDC5):c.2800A>G (p.Ser934Gly)
NM_001242896.3(DEPDC5):c.2958del (p.Phe986fs)
NM_001242896.3(DEPDC5):c.3046C>T (p.Gln1016Ter) rs886039265
NM_001242896.3(DEPDC5):c.3169CAG[1] (p.Gln1058del) rs2149117083
NM_001242896.3(DEPDC5):c.3216G>C (p.Glu1072Asp) rs753608617
NM_001242896.3(DEPDC5):c.3218G>A (p.Ser1073Asn) rs375884815
NM_001242896.3(DEPDC5):c.3259C>G (p.Arg1087Gly)
NM_001242896.3(DEPDC5):c.3259C>T (p.Arg1087Ter) rs587777458
NM_001242896.3(DEPDC5):c.3264G>A (p.Lys1088=)
NM_001242896.3(DEPDC5):c.3292C>T (p.Arg1098Cys) rs777509933
NM_001242896.3(DEPDC5):c.3305C>T (p.Thr1102Ile) rs528786894
NM_001242896.3(DEPDC5):c.3330+5G>C
NM_001242896.3(DEPDC5):c.3444del (p.Ile1148fs) rs886039266
NM_001242896.3(DEPDC5):c.3460TCC[1] (p.Ser1155del) rs2092817019
NM_001242896.3(DEPDC5):c.3479A>T (p.Asp1160Val) rs1419496771
NM_001242896.3(DEPDC5):c.3484A>G (p.Ser1162Gly) rs886039280
NM_001242896.3(DEPDC5):c.3486-3_3486-1delinsA
NM_001242896.3(DEPDC5):c.3564-1G>C
NM_001242896.3(DEPDC5):c.3612C>G (p.Cys1204Trp) rs2092932762
NM_001242896.3(DEPDC5):c.3696+10C>A rs755463750
NM_001242896.3(DEPDC5):c.3696+5G>A rs886039267
NM_001242896.3(DEPDC5):c.3758A>G (p.Tyr1253Cys) rs2092987722
NM_001242896.3(DEPDC5):c.3802C>T (p.Arg1268Ter) rs886039268
NM_001242896.3(DEPDC5):c.3803G>A (p.Arg1268Gln) rs886039281
NM_001242896.3(DEPDC5):c.3875A>C (p.Lys1292Thr) rs1602677961
NM_001242896.3(DEPDC5):c.3887T>C (p.Val1296Ala)
NM_001242896.3(DEPDC5):c.3994C>T (p.Arg1332Ter) rs886039269
NM_001242896.3(DEPDC5):c.4015C>T (p.Gln1339Ter) rs1309166815
NM_001242896.3(DEPDC5):c.4084_4087dup (p.Arg1363fs)
NM_001242896.3(DEPDC5):c.4097G>T (p.Arg1366Leu) rs1064795095
NM_001242896.3(DEPDC5):c.4107G>A (p.Trp1369Ter) rs587776975
NM_001242896.3(DEPDC5):c.413+1G>A
NM_001242896.3(DEPDC5):c.4152del (p.Phe1384fs) rs1339126434
NM_001242896.3(DEPDC5):c.4156A>C (p.Ile1386Leu) rs1555930038
NM_001242896.3(DEPDC5):c.4187del (p.Ala1396fs) rs886039271
NM_001242896.3(DEPDC5):c.418C>T (p.Gln140Ter) rs786205703
NM_001242896.3(DEPDC5):c.422_423insCTGG (p.Gly142fs) rs1601755632
NM_001242896.3(DEPDC5):c.4309G>T (p.Ala1437Ser) rs1555933951
NM_001242896.3(DEPDC5):c.435G>A (p.Trp145Ter) rs886039247
NM_001242896.3(DEPDC5):c.436dup (p.Val146fs) rs2148328679
NM_001242896.3(DEPDC5):c.4397G>A (p.Trp1466Ter) rs886039273
NM_001242896.3(DEPDC5):c.4501C>T (p.Gln1501Ter) rs1603014708
NM_001242896.3(DEPDC5):c.451del (p.Val151fs)
NM_001242896.3(DEPDC5):c.4567C>T (p.Gln1523Ter) rs797044546
NM_001242896.3(DEPDC5):c.4606C>T (p.Gln1536Ter) rs886039274
NM_001242896.3(DEPDC5):c.4627C>T (p.Arg1543Trp) rs780294726
NM_001242896.3(DEPDC5):c.4633G>A (p.Gly1545Ser) rs1229311796
NM_001242896.3(DEPDC5):c.4673G>A (p.Trp1558Ter) rs2149449539
NM_001242896.3(DEPDC5):c.4790A>G (p.Lys1597Arg)
NM_001242896.3(DEPDC5):c.484-1G>A rs886039249
NM_001242896.3(DEPDC5):c.489_491del (p.Phe164del) rs587776974
NM_001242896.3(DEPDC5):c.492_496del (p.Arg165fs) rs886039250
NM_001242896.3(DEPDC5):c.526C>T (p.Gln176Ter) rs886039251
NM_001242896.3(DEPDC5):c.530T>G (p.Met177Arg) rs2084718245
NM_001242896.3(DEPDC5):c.546G>A (p.Trp182Ter)
NM_001242896.3(DEPDC5):c.56G>C (p.Ser19Thr) rs886039275
NM_001242896.3(DEPDC5):c.59-1G>C rs886039243
NM_001242896.3(DEPDC5):c.624+1G>A rs886039252
NM_001242896.3(DEPDC5):c.640C>G (p.His214Asp) rs886039276
NM_001242896.3(DEPDC5):c.704C>G (p.Pro235Arg)
NM_001242896.3(DEPDC5):c.715C>T (p.Arg239Ter) rs587776976
NM_001242896.3(DEPDC5):c.727C>T (p.Arg243Ter) rs772872014
NM_001242896.3(DEPDC5):c.730C>T (p.Gln244Ter) rs886039253
NM_001242896.3(DEPDC5):c.767+1G>A rs2148514247
NM_001242896.3(DEPDC5):c.767+2T>C
NM_001242896.3(DEPDC5):c.779A>G (p.Gln260Arg) rs1601925119
NM_001242896.3(DEPDC5):c.783_786del (p.Asn261fs) rs886039254
NM_001242896.3(DEPDC5):c.814G>T (p.Val272Leu) rs187334123
NM_001242896.3(DEPDC5):c.828del (p.Lys276fs)
NM_001242896.3(DEPDC5):c.836T>A (p.Ile279Asn) rs2086399384
NM_001242896.3(DEPDC5):c.856C>T (p.Arg286Ter) rs886039255
NM_001242896.3(DEPDC5):c.872-3C>T rs2086521058
NM_001242896.3(DEPDC5):c.880C>T (p.Pro294Ser) rs2086522074
NM_001242896.3(DEPDC5):c.88_89insA (p.Phe30fs)
NM_001242896.3(DEPDC5):c.918C>G (p.Tyr306Ter) rs886039256
NM_001242896.3(DEPDC5):c.947-1G>A rs2148633437
NM_001242896.3(DEPDC5):c.982C>T (p.Arg328Ter) rs587776977
NM_001242896.3(DEPDC5):c.985del (p.Thr329fs) rs886039257

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