ClinVar Miner

List of variants in gene KBTBD13 reported by PreventionGenetics, part of Exact Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 33
Download table as spreadsheet
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.242C>T (p.Ala81Val) rs2919358 0.46622
NM_001101362.3(KBTBD13):c.378G>T (p.Ala126=) rs2946642 0.45129
NM_001101362.3(KBTBD13):c.1128G>A (p.Thr376=) rs116623596 0.01793
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.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.815T>A (p.Ile272Asn) rs558291810 0.00056
NM_001101362.3(KBTBD13):c.795C>T (p.Gly265=) rs577503698 0.00038
NM_001101362.3(KBTBD13):c.205C>T (p.Arg69Trp) rs530722554 0.00034
NM_001101362.3(KBTBD13):c.880C>G (p.Pro294Ala) rs560695692 0.00023
NM_001101362.3(KBTBD13):c.769G>C (p.Asp257His) rs568675071 0.00020
NM_001101362.3(KBTBD13):c.272C>A (p.Pro91Gln) rs773454367 0.00015
NM_001101362.3(KBTBD13):c.876G>A (p.Pro292=) rs543905658 0.00006
NM_001101362.3(KBTBD13):c.276G>C (p.Ala92=) rs566529505 0.00004
NM_001101362.3(KBTBD13):c.861C>T (p.Phe287=) rs777259450 0.00003
NM_001101362.3(KBTBD13):c.1341T>C (p.Ala447=) rs1298809117 0.00001
NM_001101362.3(KBTBD13):c.163G>A (p.Ala55Thr) rs551460635 0.00001
NM_001101362.3(KBTBD13):c.295C>T (p.His99Tyr) rs886038411 0.00001
NM_001101362.3(KBTBD13):c.844G>A (p.Ala282Thr) rs375482474 0.00001
NM_001101362.3(KBTBD13):c.-3G>A
NM_001101362.3(KBTBD13):c.361G>A (p.Val121Met) rs201466173
NM_001101362.3(KBTBD13):c.361G>C (p.Val121Leu) rs201466173
NM_001101362.3(KBTBD13):c.877C>T (p.Gln293Ter)
NM_001101362.3(KBTBD13):c.98G>A (p.Arg33Gln) rs200548009

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.