ClinVar Miner

List of variants in gene COQ8B studied for Nephrotic syndrome, type 9

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 34
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024876.4(COQ8B):c.1035+7T>C rs2246095 0.56103
NM_024876.4(COQ8B):c.768G>A (p.Ala256=) rs11538385 0.22464
NM_024876.4(COQ8B):c.*10T>C rs61742811 0.00969
NM_024876.4(COQ8B):c.1297-6T>G rs199934542 0.00056
NM_024876.4(COQ8B):c.953C>T (p.Thr318Met) rs55899516 0.00018
NM_024876.4(COQ8B):c.1035+8G>A rs376627440 0.00017
NM_024876.4(COQ8B):c.826G>C (p.Ala276Pro) rs200480831 0.00016
NM_024876.4(COQ8B):c.1035+3A>G rs368182892 0.00009
NM_024876.4(COQ8B):c.1391G>A (p.Arg464His) rs185934352 0.00009
NM_024876.4(COQ8B):c.1560G>A (p.Trp520Ter) rs369205319 0.00006
NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp) rs398122978 0.00004
NM_024876.4(COQ8B):c.737G>A (p.Ser246Asn) rs200841458 0.00004
NM_024876.4(COQ8B):c.958C>T (p.Arg320Trp) rs369573693 0.00003
NM_024876.4(COQ8B):c.857A>G (p.Asp286Gly) rs398122979 0.00002
NM_024876.4(COQ8B):c.101G>A (p.Trp34Ter) rs1057519345 0.00001
NM_024876.4(COQ8B):c.1186G>A (p.Glu396Lys) rs1318617277 0.00001
NM_024876.4(COQ8B):c.1552C>T (p.Arg518Cys) rs746915084 0.00001
NM_024876.4(COQ8B):c.439T>C (p.Cys147Arg) rs2082092886 0.00001
NM_024876.4(COQ8B):c.893+2T>A rs759259550 0.00001
NM_024876.4(COQ8B):c.1027C>T (p.Arg343Trp) rs398122981
NM_024876.4(COQ8B):c.1035+2T>C rs2082051467
NM_024876.4(COQ8B):c.1199dup (p.His400fs) rs398122982
NM_024876.4(COQ8B):c.1210-10G>A rs77801349
NM_024876.4(COQ8B):c.1356_1362del (p.Gln452fs) rs398122983
NM_024876.4(COQ8B):c.1430G>A (p.Arg477Gln) rs1057519347
NM_024876.4(COQ8B):c.1447G>T (p.Glu483Ter) rs398122980
NM_024876.4(COQ8B):c.1459G>T (p.Ala487Ser)
NM_024876.4(COQ8B):c.271C>T (p.Arg91Cys)
NM_024876.4(COQ8B):c.451G>A (p.Gly151Arg)
NM_024876.4(COQ8B):c.645del (p.Phe215fs) rs764587648
NM_024876.4(COQ8B):c.748G>A (p.Asp250Asn) rs769834604
NM_024876.4(COQ8B):c.748G>C (p.Asp250His) rs769834604
NM_024876.4(COQ8B):c.853T>C (p.Cys285Arg)
NM_024876.4(COQ8B):c.954_956dup (p.Thr319dup) rs1057519346

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.