ClinVar Miner

List of variants in gene DEPDC5 reported as pathogenic

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Gene type:
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Total variants: 83
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HGVS dbSNP
NC_000022.10:g.(?_32154512)_(32174174_?)del
NC_000022.11:g.(?_31754902)_(31754999_?)del
NC_000022.11:g.(?_31754902)_(31815232_?)del
NC_000022.11:g.(?_31758526)_(31758653_?)del
NC_000022.11:g.(?_31809591)_(31815232_?)del
NM_001242896.1(DEPDC5):c.-57G>C rs1383795440
NM_001242896.1(DEPDC5):c.1122delA (p.Leu374PhefsTer30) rs879255234
NM_001242896.1(DEPDC5):c.1385_1386delAT (p.Tyr462Terfs) rs1555882921
NM_001242896.1(DEPDC5):c.1746_1752delCATGCTG (p.Leu584PhefsTer12) rs886039262
NM_001242896.1(DEPDC5):c.1845delG (p.Arg615Serfs) rs1060501487
NM_001242896.1(DEPDC5):c.1909C>T (p.Arg637Ter) rs780960812
NM_001242896.1(DEPDC5):c.193+1G>A rs886039245
NM_001242896.1(DEPDC5):c.2020C>T (p.Arg674Cys) rs181347577
NM_001242896.1(DEPDC5):c.2066A>C (p.Glu689Ala) rs370940232
NM_001242896.1(DEPDC5):c.2135C>T (p.Ser712Phe) rs16989535
NM_001242896.1(DEPDC5):c.2355-2A>G (p.Arg785_Gly839del) rs797044545
NM_001242896.1(DEPDC5):c.2390delA (p.Gln797ArgfsTer18) rs886039264
NM_001242896.1(DEPDC5):c.2492_2493insAGA (p.Ser831delinsArgAsp) rs1555897392
NM_001242896.1(DEPDC5):c.279+1G>A rs886039246
NM_001242896.1(DEPDC5):c.2894_2919del26 (p.His965Profs) rs1555900914
NM_001242896.1(DEPDC5):c.3265-3C>T rs371377906
NM_001242896.1(DEPDC5):c.336_337delGG (p.Asp113Tyrfs) rs1085307452
NM_001242896.1(DEPDC5):c.3444delA (p.Ile1148MetfsTer24) rs886039266
NM_001242896.1(DEPDC5):c.346C>T (p.Arg116Ter) rs1315483224
NM_001242896.1(DEPDC5):c.3696+5G>A rs886039267
NM_001242896.1(DEPDC5):c.4033+5A>G rs886039270
NM_001242896.1(DEPDC5):c.4187delC (p.Ala1396GlufsTer21) rs886039271
NM_001242896.1(DEPDC5):c.4260delG (p.Glu1421ArgfsTer153) rs886039272
NM_001242896.1(DEPDC5):c.434G>A (p.Trp145Ter) rs1060501488
NM_001242896.1(DEPDC5):c.454_455delAT (p.Met152ValfsTer6) rs886039248
NM_001242896.1(DEPDC5):c.484-1G>A rs886039249
NM_001242896.1(DEPDC5):c.489_491delGTT (p.Phe164del) rs587776974
NM_001242896.1(DEPDC5):c.492_496delTCGTT (p.Arg165TyrfsTer14) rs886039250
NM_001242896.1(DEPDC5):c.59-1G>C rs886039243
NM_001242896.1(DEPDC5):c.624+1G>A rs886039252
NM_001242896.1(DEPDC5):c.783_786delTGAG (p.Asn261LysfsTer11) rs886039254
NM_001242896.1(DEPDC5):c.865C>T (p.Gln289Ter) rs759952667
NM_001242896.1(DEPDC5):c.985delA (p.Thr329LeufsTer7) rs886039257
NM_001242896.2(DEPDC5):c.1093_1099dup (p.Val367Glyfs) rs886039258
NM_001242896.2(DEPDC5):c.1114C>T (p.Gln372Ter) rs886039259
NM_001242896.2(DEPDC5):c.1133del (p.Pro378Hisfs)
NM_001242896.2(DEPDC5):c.1264C>T (p.Arg422Ter) rs757511744
NM_001242896.2(DEPDC5):c.132dup (p.Asn45Glnfs) rs886039244
NM_001242896.2(DEPDC5):c.1393C>T (p.Gln465Ter) rs886039260
NM_001242896.2(DEPDC5):c.1453C>T (p.Arg485Ter)
NM_001242896.2(DEPDC5):c.1459C>T (p.Arg487Ter) rs587777459
NM_001242896.2(DEPDC5):c.1555C>T (p.Gln519Ter) rs886039261
NM_001242896.2(DEPDC5):c.1663C>T (p.Arg555Ter) rs587776973
NM_001242896.2(DEPDC5):c.1759C>T (p.Arg587Ter) rs886039263
NM_001242896.2(DEPDC5):c.1936dup (p.Ser646Lysfs)
NM_001242896.2(DEPDC5):c.1964_1965del (p.Ser655Cysfs)
NM_001242896.2(DEPDC5):c.21C>G (p.Tyr7Ter) rs768241563
NM_001242896.2(DEPDC5):c.2325T>A (p.Tyr775Ter)
NM_001242896.2(DEPDC5):c.2512C>T (p.Arg838Ter)
NM_001242896.2(DEPDC5):c.2527C>T (p.Arg843Ter) rs541024038
NM_001242896.2(DEPDC5):c.2591C>T (p.Thr864Met) rs564667614
NM_001242896.2(DEPDC5):c.2620C>T (p.Arg874Ter) rs578185749
NM_001242896.2(DEPDC5):c.268G>A (p.Val90Ile) rs768456731
NM_001242896.2(DEPDC5):c.3046C>T (p.Gln1016Ter) rs886039265
NM_001242896.2(DEPDC5):c.3241A>C (p.Thr1081Pro) rs142540948
NM_001242896.2(DEPDC5):c.3259C>T (p.Arg1087Ter) rs587777458
NM_001242896.2(DEPDC5):c.3484A>G (p.Ser1162Gly) rs886039280
NM_001242896.2(DEPDC5):c.3547del (p.Ala1183Profs)
NM_001242896.2(DEPDC5):c.3802C>T (p.Arg1268Ter) rs886039268
NM_001242896.2(DEPDC5):c.3868C>T (p.Gln1290Ter)
NM_001242896.2(DEPDC5):c.3994C>T (p.Arg1332Ter) rs886039269
NM_001242896.2(DEPDC5):c.4107G>A (p.Trp1369Ter) rs587776975
NM_001242896.2(DEPDC5):c.418C>T (p.Gln140Ter) rs786205703
NM_001242896.2(DEPDC5):c.4287C>G (p.Tyr1429Ter)
NM_001242896.2(DEPDC5):c.435G>A (p.Trp145Ter) rs886039247
NM_001242896.2(DEPDC5):c.4397G>A (p.Trp1466Ter) rs886039273
NM_001242896.2(DEPDC5):c.4501_4502dup (p.Gln1501Hisfs)
NM_001242896.2(DEPDC5):c.4567C>T (p.Gln1523Ter) rs797044546
NM_001242896.2(DEPDC5):c.4606C>T (p.Gln1536Ter) rs886039274
NM_001242896.2(DEPDC5):c.526C>T (p.Gln176Ter) rs886039251
NM_001242896.2(DEPDC5):c.715C>T (p.Arg239Ter) rs587776976
NM_001242896.2(DEPDC5):c.727C>T (p.Arg243Ter) rs772872014
NM_001242896.2(DEPDC5):c.730C>T (p.Gln244Ter) rs886039253
NM_001242896.2(DEPDC5):c.788_789del (p.Arg263Lysfs)
NM_001242896.2(DEPDC5):c.814G>T (p.Val272Leu) rs187334123
NM_001242896.2(DEPDC5):c.856C>T (p.Arg286Ter) rs886039255
NM_001242896.2(DEPDC5):c.918C>G (p.Tyr306Ter) rs886039256
NM_001242896.2(DEPDC5):c.982C>T (p.Arg328Ter) rs587776977

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