ClinVar Miner

List of variants in gene HSPB1 reported as uncertain significance for Charcot-Marie-Tooth disease type 2

Included ClinVar conditions (60):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 54
Download table as spreadsheet
HGVS dbSNP
NC_000007.13:g.(?_75931813)_(75933510_?)dup
NC_000007.14:g.(?_76301442)_(76304183_?)dup
NM_001540.4(HSPB1):c.-122G>T rs553127513
NM_001540.4(HSPB1):c.-129G>T rs886062446
NM_001540.5(HSPB1):c.*116C>T
NM_001540.5(HSPB1):c.127T>C (p.Ser43Pro)
NM_001540.5(HSPB1):c.139G>A (p.Gly47Ser) rs778311776
NM_001540.5(HSPB1):c.172del (p.Leu58fs)
NM_001540.5(HSPB1):c.17T>C (p.Val6Ala)
NM_001540.5(HSPB1):c.184G>C (p.Ala62Pro)
NM_001540.5(HSPB1):c.192G>C (p.Glu64Asp)
NM_001540.5(HSPB1):c.202G>C (p.Val68Leu) rs757158514
NM_001540.5(HSPB1):c.20C>G (p.Pro7Arg) rs1405359814
NM_001540.5(HSPB1):c.210G>A (p.Ala70=)
NM_001540.5(HSPB1):c.216C>T (p.Ala72=) rs11547168
NM_001540.5(HSPB1):c.229C>T (p.Leu77Phe) rs1231796327
NM_001540.5(HSPB1):c.233_234delinsTT (p.Ser78Ile)
NM_001540.5(HSPB1):c.236G>C (p.Arg79Pro)
NM_001540.5(HSPB1):c.251G>A (p.Gly84Glu)
NM_001540.5(HSPB1):c.257C>T (p.Ser86Leu) rs749378020
NM_001540.5(HSPB1):c.266G>A (p.Arg89Gln) rs1060503022
NM_001540.5(HSPB1):c.281G>A (p.Arg94His)
NM_001540.5(HSPB1):c.286C>A (p.Arg96Ser)
NM_001540.5(HSPB1):c.29T>A (p.Leu10His) rs772216758
NM_001540.5(HSPB1):c.305A>G (p.Asn102Ser)
NM_001540.5(HSPB1):c.305A>T (p.Asn102Ile) rs765142574
NM_001540.5(HSPB1):c.364+6C>G rs753061670
NM_001540.5(HSPB1):c.364G>A (p.Gly122Ser) rs780988351
NM_001540.5(HSPB1):c.369G>C (p.Lys123Asn) rs755233365
NM_001540.5(HSPB1):c.372C>G (p.His124Gln) rs145243219
NM_001540.5(HSPB1):c.373_375GAG[1] (p.Glu126del) rs1554614633
NM_001540.5(HSPB1):c.37G>A (p.Gly13Ser) rs1475184454
NM_001540.5(HSPB1):c.380G>A (p.Arg127Gln) rs587781250
NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg) rs558882005
NM_001540.5(HSPB1):c.398A>G (p.Tyr133Cys)
NM_001540.5(HSPB1):c.403T>G (p.Ser135Ala) rs766728475
NM_001540.5(HSPB1):c.428+5G>C
NM_001540.5(HSPB1):c.428C>A (p.Thr143Lys)
NM_001540.5(HSPB1):c.451A>C (p.Thr151Pro) rs771232749
NM_001540.5(HSPB1):c.45C>A (p.Ser15Arg) rs780878780
NM_001540.5(HSPB1):c.512del (p.Lys171fs) rs1554614680
NM_001540.5(HSPB1):c.538A>C (p.Thr180Pro)
NM_001540.5(HSPB1):c.539C>G (p.Thr180Ser)
NM_001540.5(HSPB1):c.554T>C (p.Phe185Ser) rs777225392
NM_001540.5(HSPB1):c.572_584del (p.Leu191fs) rs771457306
NM_001540.5(HSPB1):c.607_609GCC[1] (p.Ala204del)
NM_001540.5(HSPB1):c.609dup (p.Ala204fs)
NM_001540.5(HSPB1):c.60C>T (p.Arg20=)
NM_001540.5(HSPB1):c.610G>A (p.Ala204Thr) rs367857772
NM_001540.5(HSPB1):c.610G>T (p.Ala204Ser)
NM_001540.5(HSPB1):c.615G>A (p.Lys205=)
NM_001540.5(HSPB1):c.615G>T (p.Lys205Asn)
NM_001540.5(HSPB1):c.80G>T (p.Arg27Leu)
NM_001540.5(HSPB1):c.89A>C (p.Asp30Ala)

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.