ClinVar Miner

List of variants in gene combination BAG2, RAB23 reported as uncertain significance for RAB23-related Carpenter syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_016277.5(RAB23):c.*2008G>A rs549684091 0.00093
NM_016277.5(RAB23):c.*2586G>A rs547766165 0.00079
NM_016277.5(RAB23):c.*722T>C rs143345846 0.00076
NM_016277.5(RAB23):c.*3033C>T rs749068215 0.00029
NM_016277.5(RAB23):c.*1131C>G rs541307925 0.00016
NM_016277.5(RAB23):c.*1534T>G rs778774458 0.00016
NM_016277.5(RAB23):c.*2681G>A rs773395495 0.00016
NM_016277.5(RAB23):c.*2753G>A rs896219710 0.00014
NM_016277.5(RAB23):c.*2769C>A rs550035886 0.00011
NM_016277.5(RAB23):c.*2876T>C rs561133735 0.00011
NM_016277.5(RAB23):c.*3129G>C rs562371430 0.00011
NM_016277.5(RAB23):c.*2067A>G rs191147024 0.00004
NM_016277.5(RAB23):c.*2341C>A rs571856902 0.00004
NM_016277.5(RAB23):c.*2245T>C rs908169983 0.00001
NM_016277.5(RAB23):c.*2319T>C rs1159890588 0.00001
NM_016277.5(RAB23):c.*795G>A rs1387081917 0.00001
NM_016277.5(RAB23):c.*1052T>C rs1764744688
NM_016277.5(RAB23):c.*1494A>G rs1764724130
NM_016277.5(RAB23):c.*1536T>G rs931746824
NM_016277.5(RAB23):c.*1817A>G rs368441472
NM_016277.5(RAB23):c.*3298A>G rs1170431413
NM_016277.5(RAB23):c.*735T>G rs886061652
NM_016277.5(RAB23):c.*850A>G rs1764753710

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.