ClinVar Miner

List of variants in gene KBTBD13 reported by Illumina Laboratory Services, Illumina

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Gene type:
ClinVar version:
Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_001101362.3(KBTBD13):c.1200T>C (p.Gly400=) rs2919360 0.99001
NM_001101362.3(KBTBD13):c.798A>G (p.Glu266=) rs2919359 0.86820
NM_001101362.3(KBTBD13):c.*305C>T rs2946643 0.85557
NM_001101362.3(KBTBD13):c.242C>T (p.Ala81Val) rs2919358 0.46622
NM_001101362.3(KBTBD13):c.378G>T (p.Ala126=) rs2946642 0.45129
NM_001101362.3(KBTBD13):c.*122T>C rs12901617 0.41689
NM_001101362.3(KBTBD13):c.*897A>G rs12905499 0.40070
NM_001101362.3(KBTBD13):c.*520A>G rs12904843 0.36673
NM_001101362.3(KBTBD13):c.1128G>A (p.Thr376=) rs116623596 0.01793
NM_001101362.3(KBTBD13):c.*1611G>A rs16948496 0.01149
NM_001101362.3(KBTBD13):c.1197C>T (p.Arg399=) rs150830358 0.01081
NM_001101362.3(KBTBD13):c.794G>A (p.Gly265Asp) rs146917406 0.00958
NM_001101362.3(KBTBD13):c.-13C>T rs147079462 0.00829
NM_001101362.3(KBTBD13):c.246G>C (p.Val82=) rs115182478 0.00729
NM_001101362.3(KBTBD13):c.1363A>G (p.Thr455Ala) rs116406369 0.00642
NM_001101362.3(KBTBD13):c.*222G>A rs114112578 0.00410
NM_001101362.3(KBTBD13):c.*1075C>T rs75894955 0.00380
NM_001101362.3(KBTBD13):c.*995T>C rs146228424 0.00305
NM_001101362.3(KBTBD13):c.89G>A (p.Gly30Asp) rs138484272 0.00305
NM_001101362.2(KBTBD13):c.*1758T>G rs151148121 0.00304
NM_001101362.3(KBTBD13):c.*1650T>C rs142046728 0.00304
NM_001101362.3(KBTBD13):c.*1499T>C rs117320020 0.00275
NM_001101362.3(KBTBD13):c.*1122C>T rs111801368 0.00252
NM_001101362.3(KBTBD13):c.954C>G (p.Thr318=) rs368781046 0.00246
NM_001101362.3(KBTBD13):c.*1556G>A rs148606250 0.00226
NM_001101362.3(KBTBD13):c.1077A>G (p.Gly359=) rs199526404 0.00224
NM_001101362.3(KBTBD13):c.188A>T (p.Gln63Leu) rs202004658 0.00175
NM_001101362.3(KBTBD13):c.981C>G (p.Thr327=) rs184130258 0.00106
NM_001101362.3(KBTBD13):c.117C>T (p.Gly39=) rs367684457 0.00105
NM_001101362.3(KBTBD13):c.7C>T (p.Arg3Trp) rs766815771 0.00041
NM_001101362.3(KBTBD13):c.*1582C>T rs111882334 0.00035
NM_001101362.3(KBTBD13):c.471C>T (p.Tyr157=) rs550724858 0.00032
NM_001101362.3(KBTBD13):c.*684C>T rs549339931 0.00025
NM_001101362.3(KBTBD13):c.*403C>A rs748599461 0.00023
NM_001101362.3(KBTBD13):c.769G>C (p.Asp257His) rs568675071 0.00020
NM_001101362.3(KBTBD13):c.331G>A (p.Asp111Asn) rs567309902 0.00019
NM_001101362.3(KBTBD13):c.*41C>T rs185053492 0.00016
NM_001101362.3(KBTBD13):c.729C>G (p.Ser243Arg) rs767990371 0.00016
NM_001101362.3(KBTBD13):c.394G>A (p.Gly132Ser) rs373039171 0.00014
NM_001101362.3(KBTBD13):c.283C>A (p.Arg95Ser) rs377071831 0.00011
NM_001101362.3(KBTBD13):c.2T>G (p.Met1Arg) rs374196960 0.00011
NM_001101362.3(KBTBD13):c.*174G>A rs983773942 0.00007
NM_001101362.3(KBTBD13):c.*699G>A rs142860231 0.00007
NM_001101362.3(KBTBD13):c.224A>C (p.Glu75Ala) rs755775428 0.00006
NM_001101362.3(KBTBD13):c.*1276G>T rs886051344 0.00004
NM_001101362.3(KBTBD13):c.1191G>C (p.Val397=) rs376673920 0.00004
NM_001101362.3(KBTBD13):c.228C>G (p.Asp76Glu) rs777431652 0.00003
NM_001101362.3(KBTBD13):c.921C>T (p.Leu307=) rs773691737 0.00003
NM_001101362.3(KBTBD13):c.*1421C>T rs374389911 0.00002
NM_001101362.3(KBTBD13):c.*1112C>T rs886051342 0.00001
NM_001101362.3(KBTBD13):c.*380A>G rs932464244 0.00001
NM_001101362.3(KBTBD13):c.*694T>C rs886051341 0.00001
NM_001101362.3(KBTBD13):c.1010G>A (p.Arg337Gln) rs771413223 0.00001
NM_001101362.3(KBTBD13):c.163G>A (p.Ala55Thr) rs551460635 0.00001
NM_001101362.3(KBTBD13):c.252C>T (p.Cys84=) rs886051334 0.00001
NM_001101362.3(KBTBD13):c.396C>G (p.Gly132=) rs1232211104 0.00001
NM_001101362.3(KBTBD13):c.649G>A (p.Val217Met) rs555158930 0.00001
NM_001101362.3(KBTBD13):c.844G>A (p.Ala282Thr) rs375482474 0.00001
NM_001101362.3(KBTBD13):c.*1117CTC[2] rs886051343
NM_001101362.3(KBTBD13):c.*112AC[1] rs564772853
NM_001101362.3(KBTBD13):c.*1306T>G rs541447859
NM_001101362.3(KBTBD13):c.*1323A>T rs992471402
NM_001101362.3(KBTBD13):c.*1514T>C rs189406063
NM_001101362.3(KBTBD13):c.*33C>T rs886051336
NM_001101362.3(KBTBD13):c.*387dup rs886051339
NM_001101362.3(KBTBD13):c.*543ATAAA[1] rs550812743
NM_001101362.3(KBTBD13):c.*71C>T rs886051337
NM_001101362.3(KBTBD13):c.*846G>C rs17804968
NM_001101362.3(KBTBD13):c.*846G>T rs17804968
NM_001101362.3(KBTBD13):c.1048C>G (p.Arg350Gly) rs779744493
NM_001101362.3(KBTBD13):c.1101C>T (p.Cys367=) rs543844534
NM_001101362.3(KBTBD13):c.1139C>T (p.Thr380Met) rs769627742
NM_001101362.3(KBTBD13):c.1175C>T (p.Ala392Val) rs1296754906
NM_001101362.3(KBTBD13):c.162C>T (p.Ser54=) rs1162054356
NM_001101362.3(KBTBD13):c.238C>T (p.Gln80Ter) rs886051333
NM_001101362.3(KBTBD13):c.309G>C (p.Ser103=) rs760134475
NM_001101362.3(KBTBD13):c.333C>G (p.Asp111Glu) rs188146580
NM_001101362.3(KBTBD13):c.342C>A (p.Ala114=) rs538410855
NM_001101362.3(KBTBD13):c.361G>A (p.Val121Met) rs201466173
NM_001101362.3(KBTBD13):c.485C>A (p.Thr162Lys) rs1269389678
NM_001101362.3(KBTBD13):c.516C>G (p.Asp172Glu) rs142592180
NM_001101362.3(KBTBD13):c.718G>A (p.Glu240Lys) rs1293899823
NM_001101362.3(KBTBD13):c.742C>T (p.Arg248Cys) rs200549195
NM_001101362.3(KBTBD13):c.751A>G (p.Thr251Ala) rs757250245
NM_001101362.3(KBTBD13):c.924C>T (p.Phe308=) rs886051335

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