ClinVar Miner

List of variants in gene SETD5 reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 172
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NC_000003.11:g.(?_9470623)_(9485121_?)del
NC_000003.11:g.(?_9506089)_(9506376_?)del
NM_001080517.1:r.627_810del
NM_001080517.3(SETD5):c.1006_1007del (p.Met336fs)
NM_001080517.3(SETD5):c.1028dup (p.Gly344fs) rs2125194140
NM_001080517.3(SETD5):c.1029del (p.Phe343fs)
NM_001080517.3(SETD5):c.1042C>T (p.Arg348Trp) rs1553621798
NM_001080517.3(SETD5):c.1043G>A (p.Arg348Gln) rs2125194268
NM_001080517.3(SETD5):c.1077+1G>T rs2041380175
NM_001080517.3(SETD5):c.1081C>T (p.Arg361Ter) rs2125212001
NM_001080517.3(SETD5):c.1082G>C (p.Arg361Pro) rs2125212022
NM_001080517.3(SETD5):c.1087_1088del (p.Met363fs) rs1553622384
NM_001080517.3(SETD5):c.1125dup (p.Val376fs) rs1135401767
NM_001080517.3(SETD5):c.1194_1195dup (p.Lys399fs)
NM_001080517.3(SETD5):c.1195A>T (p.Lys399Ter) rs587777325
NM_001080517.3(SETD5):c.1206T>A (p.Cys402Ter) rs1553623299
NM_001080517.3(SETD5):c.1248del (p.Asn417fs) rs2125235547
NM_001080517.3(SETD5):c.1314_1315del (p.Glu438fs)
NM_001080517.3(SETD5):c.1333C>T (p.Arg445Ter) rs886039432
NM_001080517.3(SETD5):c.1390C>T (p.Gln464Ter) rs2041797086
NM_001080517.3(SETD5):c.1416dup (p.Val473fs)
NM_001080517.3(SETD5):c.1441-1G>A rs2041850171
NM_001080517.3(SETD5):c.1441-2A>G rs2041850053
NM_001080517.3(SETD5):c.1459G>T (p.Glu487Ter) rs369459846
NM_001080517.3(SETD5):c.1483G>T (p.Glu495Ter)
NM_001080517.3(SETD5):c.1495del (p.Asp499fs) rs2041856807
NM_001080517.3(SETD5):c.1498C>T (p.Gln500Ter) rs1559427364
NM_001080517.3(SETD5):c.1525-1G>A rs2125271279
NM_001080517.3(SETD5):c.1525-1G>C rs2125271279
NM_001080517.3(SETD5):c.1538del (p.Arg513fs)
NM_001080517.3(SETD5):c.1539_1542del (p.Arg513_Lys514insTer)
NM_001080517.3(SETD5):c.1540A>T (p.Lys514Ter) rs1553625037
NM_001080517.3(SETD5):c.1561_1564dup (p.Phe522fs)
NM_001080517.3(SETD5):c.1566del (p.Phe522fs) rs1575466399
NM_001080517.3(SETD5):c.1571dup (p.Asn524fs)
NM_001080517.3(SETD5):c.1573_1574del (p.Leu525fs) rs2042109833
NM_001080517.3(SETD5):c.1579A>T (p.Lys527Ter)
NM_001080517.3(SETD5):c.1605del (p.Leu536fs)
NM_001080517.3(SETD5):c.1609del (p.Glu537fs)
NM_001080517.3(SETD5):c.1612C>T (p.Gln538Ter) rs1299627284
NM_001080517.3(SETD5):c.1623dup (p.Asp542Ter) rs1575466995
NM_001080517.3(SETD5):c.1626del (p.Asp542fs)
NM_001080517.3(SETD5):c.1635_1638del (p.Thr546fs)
NM_001080517.3(SETD5):c.1689del (p.Glu564fs) rs2125273254
NM_001080517.3(SETD5):c.1702_1703insT (p.Ser568fs) rs2042123799
NM_001080517.3(SETD5):c.1710dup (p.Val571fs)
NM_001080517.3(SETD5):c.1715C>G (p.Ser572Ter) rs751539788
NM_001080517.3(SETD5):c.1716_1717insC (p.Asn573fs) rs1575467870
NM_001080517.3(SETD5):c.1725del (p.Ile576fs)
NM_001080517.3(SETD5):c.1741_1742del (p.Gln581fs) rs1131691711
NM_001080517.3(SETD5):c.1744_1745del (p.Ser582fs) rs2042128326
NM_001080517.3(SETD5):c.174T>A (p.Tyr58Ter) rs2040265772
NM_001080517.3(SETD5):c.1783-1G>C rs1553625691
NM_001080517.3(SETD5):c.1783-2A>T rs797044953
NM_001080517.3(SETD5):c.1801del (p.Lys600_Leu601insTer) rs2042181751
NM_001080517.3(SETD5):c.1820dup (p.Ala608fs)
NM_001080517.3(SETD5):c.1852C>T (p.Arg618Ter) rs1218918142
NM_001080517.3(SETD5):c.1853del (p.Arg618fs)
NM_001080517.3(SETD5):c.1893_1894insA (p.Arg632fs) rs1553625836
NM_001080517.3(SETD5):c.1899_1902del (p.Gln633fs) rs2042190198
NM_001080517.3(SETD5):c.1904A>G (p.Gln635Arg) rs2042190375
NM_001080517.3(SETD5):c.1910_1932dup (p.Gln645fs)
NM_001080517.3(SETD5):c.1915C>T (p.Gln639Ter) rs2042191502
NM_001080517.3(SETD5):c.1918C>T (p.Gln640Ter) rs2042191795
NM_001080517.3(SETD5):c.1959dup (p.Asn654Ter) rs2125280717
NM_001080517.3(SETD5):c.1967T>G (p.Leu656Ter) rs768750924
NM_001080517.3(SETD5):c.1967del (p.Ser655_Leu656insTer) rs2125280753
NM_001080517.3(SETD5):c.1993del (p.Ser664_Leu665insTer) rs1064796399
NM_001080517.3(SETD5):c.2003C>G (p.Ser668Ter)
NM_001080517.3(SETD5):c.2074del (p.Ala692fs) rs2042206485
NM_001080517.3(SETD5):c.2097dup (p.Lys700fs) rs1575472601
NM_001080517.3(SETD5):c.2102del (p.Lys701fs) rs1575472646
NM_001080517.3(SETD5):c.2113dup (p.Thr705fs) rs1575475545
NM_001080517.3(SETD5):c.2126dup (p.Asn709fs)
NM_001080517.3(SETD5):c.2143C>T (p.Gln715Ter) rs925484505
NM_001080517.3(SETD5):c.2154del (p.Val719fs) rs1575475764
NM_001080517.3(SETD5):c.2168T>A (p.Leu723Ter)
NM_001080517.3(SETD5):c.2168dup (p.Leu723fs) rs2042262374
NM_001080517.3(SETD5):c.2177_2178del (p.Thr726fs) rs587777326
NM_001080517.3(SETD5):c.2216_2217del (p.Leu739fs) rs2042266753
NM_001080517.3(SETD5):c.2255_2270delinsTTTGGCTCACC (p.Pro752fs)
NM_001080517.3(SETD5):c.2268del (p.Arg757fs) rs2042271732
NM_001080517.3(SETD5):c.2279C>A (p.Ser760Ter) rs1553626575
NM_001080517.3(SETD5):c.2302C>T (p.Arg768Ter) rs864321657
NM_001080517.3(SETD5):c.2340dup (p.Lys781Ter) rs1559439258
NM_001080517.3(SETD5):c.2343_2344delinsTT (p.Lys781_Lys782delinsAsnTer) rs2125290668
NM_001080517.3(SETD5):c.2346+1G>A
NM_001080517.3(SETD5):c.2347-1G>A rs1553629676
NM_001080517.3(SETD5):c.2347-7A>G rs886041593
NM_001080517.3(SETD5):c.2356A>T (p.Lys786Ter) rs1553629700
NM_001080517.3(SETD5):c.2359C>T (p.Gln787Ter) rs2042899128
NM_001080517.3(SETD5):c.2386dup (p.Thr796fs) rs2042902664
NM_001080517.3(SETD5):c.2388_2389del (p.Ser797fs) rs1559451052
NM_001080517.3(SETD5):c.2394_2401dup (p.Gln801fs)
NM_001080517.3(SETD5):c.2428C>T (p.Gln810Ter)
NM_001080517.3(SETD5):c.2438dup (p.Asn814fs)
NM_001080517.3(SETD5):c.2474dup (p.Asp826fs)
NM_001080517.3(SETD5):c.2508dup (p.Arg837fs) rs1553635477
NM_001080517.3(SETD5):c.2521G>T (p.Glu841Ter) rs2125500010
NM_001080517.3(SETD5):c.2573dup (p.Pro859fs)
NM_001080517.3(SETD5):c.2590_2591del (p.Lys864fs)
NM_001080517.3(SETD5):c.2638G>T (p.Glu880Ter)
NM_001080517.3(SETD5):c.2644C>T (p.Arg882Ter) rs1553635637
NM_001080517.3(SETD5):c.2685_2697del (p.Thr896fs) rs2044345693
NM_001080517.3(SETD5):c.2686dup (p.Thr896fs)
NM_001080517.3(SETD5):c.2734C>T (p.Arg912Ter) rs2045177486
NM_001080517.3(SETD5):c.2757dup (p.Val920fs) rs1553638715
NM_001080517.3(SETD5):c.2784del (p.Asn928fs)
NM_001080517.3(SETD5):c.2807_2809delinsAA (p.Leu936fs) rs2045187265
NM_001080517.3(SETD5):c.2838_2847del (p.His947fs)
NM_001080517.3(SETD5):c.2881A>T (p.Arg961Ter) rs2125578212
NM_001080517.3(SETD5):c.2909dup (p.Arg971fs) rs1553638877
NM_001080517.3(SETD5):c.2955T>G (p.Tyr985Ter)
NM_001080517.3(SETD5):c.2965_2972dup (p.Asn991_Ala992insLeuTer) rs2125578920
NM_001080517.3(SETD5):c.2983C>T (p.Arg995Ter) rs2125579037
NM_001080517.3(SETD5):c.2998dup (p.Tyr1000fs)
NM_001080517.3(SETD5):c.3001C>T (p.Arg1001Ter)
NM_001080517.3(SETD5):c.3016del (p.Val1006fs) rs2045208860
NM_001080517.3(SETD5):c.3038del (p.His1013fs) rs2125579512
NM_001080517.3(SETD5):c.3041del (p.Leu1014fs)
NM_001080517.3(SETD5):c.3087T>G (p.Tyr1029Ter)
NM_001080517.3(SETD5):c.3172dup (p.Gln1058fs) rs1197870764
NM_001080517.3(SETD5):c.3195+3_3195+6del
NM_001080517.3(SETD5):c.3195del (p.Val1066fs) rs2125580802
NM_001080517.3(SETD5):c.3214C>T (p.Arg1072Ter) rs2045524028
NM_001080517.3(SETD5):c.3246del (p.Ala1083fs) rs886041755
NM_001080517.3(SETD5):c.3257del (p.Gly1086fs)
NM_001080517.3(SETD5):c.3266_3267del (p.Ser1089fs) rs1064796348
NM_001080517.3(SETD5):c.3301C>T (p.Gln1101Ter) rs1304648449
NM_001080517.3(SETD5):c.3361C>T (p.Arg1121Ter)
NM_001080517.3(SETD5):c.345dup (p.Lys116fs) rs2040365404
NM_001080517.3(SETD5):c.3512C>G (p.Ser1171Ter)
NM_001080517.3(SETD5):c.3520C>T (p.Arg1174Ter) rs1559496157
NM_001080517.3(SETD5):c.3526C>T (p.Arg1176Ter) rs1181898358
NM_001080517.3(SETD5):c.3556C>T (p.Arg1186Ter)
NM_001080517.3(SETD5):c.3571del (p.Val1191fs)
NM_001080517.3(SETD5):c.3577C>T (p.Gln1193Ter)
NM_001080517.3(SETD5):c.3586G>T (p.Glu1196Ter) rs763827023
NM_001080517.3(SETD5):c.3631+1G>A rs1553640838
NM_001080517.3(SETD5):c.371del (p.Lys124fs)
NM_001080517.3(SETD5):c.3771dup (p.Ser1258fs) rs587777328
NM_001080517.3(SETD5):c.3855dup (p.Ser1286fs) rs1553641476
NM_001080517.3(SETD5):c.3856del (p.Ser1286fs) rs587777329
NM_001080517.3(SETD5):c.3858_3859del (p.His1287fs) rs2045779618
NM_001080517.3(SETD5):c.387del (p.Gly130fs)
NM_001080517.3(SETD5):c.489dup (p.Val164fs) rs2125111250
NM_001080517.3(SETD5):c.510del (p.Lys171fs)
NM_001080517.3(SETD5):c.536del (p.Gly179fs) rs2125111475
NM_001080517.3(SETD5):c.547_567+60del rs1553618323
NM_001080517.3(SETD5):c.586C>T (p.Gln196Ter) rs1559413463
NM_001080517.3(SETD5):c.588_591del (p.Gln196fs)
NM_001080517.3(SETD5):c.648del (p.Gln216fs) rs2041147607
NM_001080517.3(SETD5):c.670del (p.Gln224fs) rs2041149106
NM_001080517.3(SETD5):c.759_760del (p.Ile253_Asn254insTer) rs2125171543
NM_001080517.3(SETD5):c.787A>T (p.Thr263Ser)
NM_001080517.3(SETD5):c.814C>T (p.Gln272Ter)
NM_001080517.3(SETD5):c.821del (p.Gly274fs) rs1575427309
NM_001080517.3(SETD5):c.829dup (p.Thr277fs) rs2125187131
NM_001080517.3(SETD5):c.868_872del (p.Arg290fs)
NM_001080517.3(SETD5):c.875del (p.Leu292fs) rs2041310524
NM_001080517.3(SETD5):c.889_890del (p.Leu297fs) rs2125187619
NM_001080517.3(SETD5):c.890_897delinsC (p.Leu297fs) rs2125187678
NM_001080517.3(SETD5):c.891dup (p.Ile298fs)
NM_001080517.3(SETD5):c.893T>C (p.Ile298Thr)
NM_001080517.3(SETD5):c.896_897del (p.Ile299fs)
NM_001080517.3(SETD5):c.905_915dup (p.Met306fs) rs1553621390
NM_001080517.3(SETD5):c.922C>T (p.Arg308Ter) rs1421204500
NM_001080517.3(SETD5):c.941A>G (p.Asn314Ser) rs2041315307
NM_001080517.3(SETD5):c.960-1G>A
NM_001080517.3(SETD5):c.960-5C>G rs2125193661
NM_001080517.3(SETD5):c.960-6C>G rs780130566
NM_001080517.3(SETD5):c.960del (p.Lys320fs) rs2041316219

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.