ClinVar Miner

List of variants in gene KBTBD13 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 61
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.*122T>C rs12901617 0.41689
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.246G>C (p.Val82=) rs115182478 0.00729
NM_001101362.3(KBTBD13):c.*222G>A rs114112578 0.00410
NM_001101362.3(KBTBD13):c.89G>A (p.Gly30Asp) rs138484272 0.00305
NM_001101362.3(KBTBD13):c.954C>G (p.Thr318=) rs368781046 0.00246
NM_001101362.3(KBTBD13):c.1077A>G (p.Gly359=) rs199526404 0.00224
NM_001101362.3(KBTBD13):c.214C>T (p.Leu72=) rs550537101 0.00205
NM_001101362.3(KBTBD13):c.188A>T (p.Gln63Leu) rs202004658 0.00175
NM_001101362.3(KBTBD13):c.1119C>T (p.Asn373=) rs201760548 0.00109
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.963G>A (p.Val321=) rs548699720 0.00036
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.1305C>T (p.Ser435=) rs777830269 0.00018
NM_001101362.3(KBTBD13):c.1232C>T (p.Thr411Met) rs372826347 0.00014
NM_001101362.3(KBTBD13):c.882G>A (p.Pro294=) rs767222138 0.00013
NM_001101362.3(KBTBD13):c.2T>G (p.Met1Arg) rs374196960 0.00011
NM_001101362.3(KBTBD13):c.1107C>G (p.Ile369Met) rs757616268 0.00006
NM_001101362.3(KBTBD13):c.305C>A (p.Thr102Lys) rs1321779623 0.00006
NM_001101362.3(KBTBD13):c.290T>C (p.Leu97Pro) rs767384093 0.00005
NM_001101362.3(KBTBD13):c.240G>T (p.Gln80His) rs1040368554 0.00003
NM_001101362.3(KBTBD13):c.403G>A (p.Glu135Lys) rs530549178 0.00003
NM_001101362.3(KBTBD13):c.921C>T (p.Leu307=) rs773691737 0.00003
NM_001101362.3(KBTBD13):c.251G>C (p.Cys84Ser) rs999785767 0.00002
NM_001101362.3(KBTBD13):c.1252G>T (p.Gly418Cys) rs1220678073 0.00001
NM_001101362.3(KBTBD13):c.1291C>T (p.Pro431Ser) rs755476256 0.00001
NM_001101362.3(KBTBD13):c.575C>A (p.Ala192Glu) rs966078874 0.00001
NM_001101362.3(KBTBD13):c.588G>A (p.Glu196=) rs2086991061 0.00001
NM_001101362.3(KBTBD13):c.64C>G (p.Arg22Gly) rs1193653136 0.00001
NM_001101362.3(KBTBD13):c.778C>T (p.Leu260Phe) rs769416249 0.00001
NM_001101362.3(KBTBD13):c.901G>T (p.Ala301Ser) rs540070816 0.00001
NM_001101362.3(KBTBD13):c.916C>T (p.Arg306Cys) rs748475145 0.00001
NM_001101362.3(KBTBD13):c.1006C>G (p.Leu336Val) rs1131691634
NM_001101362.3(KBTBD13):c.1042del (p.Ala348fs) rs760102500
NM_001101362.3(KBTBD13):c.115G>T (p.Gly39Cys) rs201420126
NM_001101362.3(KBTBD13):c.1170G>T (p.Lys390Asn)
NM_001101362.3(KBTBD13):c.1187C>T (p.Ala396Val)
NM_001101362.3(KBTBD13):c.1273A>C (p.Arg425=)
NM_001101362.3(KBTBD13):c.15dup (p.Gln6fs) rs1555407522
NM_001101362.3(KBTBD13):c.197G>A (p.Arg66His) rs939242678
NM_001101362.3(KBTBD13):c.209C>T (p.Pro70Leu) rs766269932
NM_001101362.3(KBTBD13):c.244G>A (p.Val82Met) rs1303411209
NM_001101362.3(KBTBD13):c.276_277insT (p.Leu93fs) rs2140543574
NM_001101362.3(KBTBD13):c.27G>A (p.Val9=)
NM_001101362.3(KBTBD13):c.293A>G (p.Glu98Gly)
NM_001101362.3(KBTBD13):c.2T>A (p.Met1Lys) rs374196960
NM_001101362.3(KBTBD13):c.333C>G (p.Asp111Glu) rs188146580
NM_001101362.3(KBTBD13):c.340dup (p.Ala114fs)
NM_001101362.3(KBTBD13):c.358G>C (p.Asp120His) rs1403660333
NM_001101362.3(KBTBD13):c.361G>A (p.Val121Met) rs201466173
NM_001101362.3(KBTBD13):c.563G>A (p.Arg188His)
NM_001101362.3(KBTBD13):c.597G>A (p.Thr199=)
NM_001101362.3(KBTBD13):c.655G>A (p.Gly219Ser)
NM_001101362.3(KBTBD13):c.742C>T (p.Arg248Cys) rs200549195
NM_001101362.3(KBTBD13):c.867C>A (p.Ala289=) rs1057524136
NM_001101362.3(KBTBD13):c.990G>C (p.Trp330Cys) rs1064797021

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.