ClinVar Miner

List of variants in gene HSPB8 reported as benign for Charcot-Marie-Tooth disease

Included ClinVar conditions (138):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
NM_014365.2(HSPB8):c.*440C>G rs13378054
NM_014365.2(HSPB8):c.*581G>A rs56754798
NM_014365.2(HSPB8):c.*616C>G rs6413487
NM_014365.2(HSPB8):c.*616C>T rs6413487
NM_014365.2(HSPB8):c.*644A>G rs11038
NM_014365.2(HSPB8):c.*684G>A rs1133026
NM_014365.2(HSPB8):c.-193T>C rs11549401
NM_014365.2(HSPB8):c.-457A>G rs564088535
NM_014365.2(HSPB8):c.402T>C (p.Ile134=) rs56323028
NM_014365.2(HSPB8):c.499G>A (p.Glu167Lys) rs148514935
NM_014365.2(HSPB8):c.535G>C (p.Glu179Gln) rs74740454
NM_014365.2(HSPB8):c.552C>T (p.Asn184=) rs112052602
NM_014365.2(HSPB8):c.582C>T (p.Thr194=) rs4628742
NM_014365.3(HSPB8):c.171C>T (p.Ser57=) rs143010542

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.