ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease axonal type 2F by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001540.5(HSPB1):c.*11C>T rs1058872 0.02598
NM_001540.4(HSPB1):c.-46C>T rs35907174 0.00569
NM_001540.5(HSPB1):c.36G>T (p.Arg12=) rs145369859 0.00486
NM_001540.4(HSPB1):c.-56C>T rs35759978 0.00306
NM_001540.5(HSPB1):c.*22C>T rs557532119 0.00300
NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser) rs61751217 0.00153
NM_001540.5(HSPB1):c.-19C>T rs199602956 0.00149
NM_001540.5(HSPB1):c.24C>T (p.Phe8=) rs201769668 0.00024
NM_001540.5(HSPB1):c.*116C>T rs368381742 0.00007
NM_001540.5(HSPB1):c.399C>T (p.Tyr133=) rs140791936 0.00007
NM_001540.5(HSPB1):c.501C>T (p.Ala167=) rs529095936 0.00007
NM_001540.5(HSPB1):c.210G>A (p.Ala70=) rs749963653 0.00006
NM_001540.5(HSPB1):c.-4C>T rs372833436 0.00005
NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg) rs558882005 0.00003
NM_001540.5(HSPB1):c.216C>T (p.Ala72=) rs11547168 0.00002
NM_001540.5(HSPB1):c.498G>A (p.Glu166=) rs148357753 0.00002
NM_001540.4(HSPB1):c.-122G>T rs553127513
NM_001540.4(HSPB1):c.-129G>T rs886062446
NM_001540.5(HSPB1):c.108C>G (p.Pro36=) rs765197724
NM_001540.5(HSPB1):c.236G>C (p.Arg79Pro) rs926257693
NM_001540.5(HSPB1):c.305A>T (p.Asn102Ile) rs765142574
NM_001540.5(HSPB1):c.364+6C>G rs753061670
NM_001540.5(HSPB1):c.365-6C>G rs200902768
NM_001540.5(HSPB1):c.365-7C>T rs201897299
NM_001540.5(HSPB1):c.60C>T (p.Arg20=) rs1803014628
NM_001540.5(HSPB1):c.610G>A (p.Ala204Thr) rs367857772
NM_001540.5(HSPB1):c.615G>A (p.Lys205=) rs1310856057

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.