ClinVar Miner

List of variants in gene HSPB1 studied for Charcot-Marie-Tooth disease

Included ClinVar conditions (135):
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Gene type:
ClinVar version:
Total variants: 130
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HGVS dbSNP
NC_000007.13:g.(?_75931813)_(75933510_?)dup
NC_000007.14:g.(?_76301442)_(76304183_?)dup
NC_000007.14:g.(?_76303782)_(76304193_?)del
NC_000007.14:g.(?_76303789)_(76304183_?)del
NC_000007.14:g.(?_76303802)_(76304173_?)del
NC_000007.14:g.76302657C>T
NM_001540.4(HSPB1):c.-122G>T rs553127513
NM_001540.4(HSPB1):c.-129G>T rs886062446
NM_001540.4(HSPB1):c.-46C>T rs35907174
NM_001540.5(HSPB1):c.*116C>T
NM_001540.5(HSPB1):c.*11C>T rs1058872
NM_001540.5(HSPB1):c.*20A>C
NM_001540.5(HSPB1):c.*22C>T
NM_001540.5(HSPB1):c.-15G>A rs756260929
NM_001540.5(HSPB1):c.-19C>T rs199602956
NM_001540.5(HSPB1):c.-4C>T rs372833436
NM_001540.5(HSPB1):c.-5C>T
NM_001540.5(HSPB1):c.100G>A (p.Gly34Arg) rs1554614432
NM_001540.5(HSPB1):c.108C>G (p.Pro36=)
NM_001540.5(HSPB1):c.110G>C (p.Arg37Pro)
NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu) rs557327165
NM_001540.5(HSPB1):c.121G>A (p.Glu41Lys) rs1393404971
NM_001540.5(HSPB1):c.127T>C (p.Ser43Pro)
NM_001540.5(HSPB1):c.129G>A (p.Ser43=) rs764071304
NM_001540.5(HSPB1):c.138A>G (p.Leu46=) rs757180608
NM_001540.5(HSPB1):c.139G>A (p.Gly47Ser) rs778311776
NM_001540.5(HSPB1):c.153G>A (p.Trp51Ter)
NM_001540.5(HSPB1):c.16G>A (p.Val6Ile) rs1049324
NM_001540.5(HSPB1):c.171_172insGCGCCCT (p.Leu58fs) rs1583964560
NM_001540.5(HSPB1):c.172del (p.Leu58fs)
NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser) rs61751217
NM_001540.5(HSPB1):c.17T>C (p.Val6Ala) rs773864816
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.204G>C (p.Val68=) rs1554614462
NM_001540.5(HSPB1):c.20C>G (p.Pro7Arg) rs1405359814
NM_001540.5(HSPB1):c.210G>A (p.Ala70=) rs749963653
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.235C>T (p.Arg79Trp)
NM_001540.5(HSPB1):c.236G>C (p.Arg79Pro)
NM_001540.5(HSPB1):c.240A>G (p.Gln80=) rs377246178
NM_001540.5(HSPB1):c.243C>T (p.Leu81=) rs1478776061
NM_001540.5(HSPB1):c.24C>T (p.Phe8=) rs201769668
NM_001540.5(HSPB1):c.250G>A (p.Gly84Arg) rs770272088
NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg) rs770272088
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.277G>A (p.Asp93Asn) rs777201941
NM_001540.5(HSPB1):c.281G>A (p.Arg94His)
NM_001540.5(HSPB1):c.286C>A (p.Arg96Ser) rs761660005
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.318G>C (p.Pro106=) rs750349055
NM_001540.5(HSPB1):c.339C>G (p.Thr113=) rs751064405
NM_001540.5(HSPB1):c.349G>A (p.Val117Met)
NM_001540.5(HSPB1):c.364+10C>A rs577343607
NM_001540.5(HSPB1):c.364+6C>G rs753061670
NM_001540.5(HSPB1):c.364+9_364+20del
NM_001540.5(HSPB1):c.364G>A (p.Gly122Ser) rs780988351
NM_001540.5(HSPB1):c.365-13C>T rs767168094
NM_001540.5(HSPB1):c.365-5C>T rs368936457
NM_001540.5(HSPB1):c.365-5del rs759570569
NM_001540.5(HSPB1):c.365-5dup
NM_001540.5(HSPB1):c.365-67C>T rs1583965825
NM_001540.5(HSPB1):c.365-6C>G rs200902768
NM_001540.5(HSPB1):c.365-7C>G rs201897299
NM_001540.5(HSPB1):c.365-7C>T
NM_001540.5(HSPB1):c.368A>C (p.Lys123Thr)
NM_001540.5(HSPB1):c.369G>C (p.Lys123Asn) rs755233365
NM_001540.5(HSPB1):c.36G>T (p.Arg12=) rs145369859
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.379C>T (p.Arg127Trp) rs29001571
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.380G>T (p.Arg127Leu) rs587781250
NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg) rs558882005
NM_001540.5(HSPB1):c.398A>G (p.Tyr133Cys) rs1583966042
NM_001540.5(HSPB1):c.399C>T (p.Tyr133=)
NM_001540.5(HSPB1):c.403T>G (p.Ser135Ala) rs766728475
NM_001540.5(HSPB1):c.404C>A (p.Ser135Tyr) rs28939680
NM_001540.5(HSPB1):c.404C>G (p.Ser135Cys) rs28939680
NM_001540.5(HSPB1):c.404C>T (p.Ser135Phe) rs28939680
NM_001540.5(HSPB1):c.406C>T (p.Arg136Trp) rs28939681
NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu) rs863225022
NM_001540.5(HSPB1):c.418C>G (p.Arg140Gly) rs121909112
NM_001540.5(HSPB1):c.421A>C (p.Lys141Gln) rs1554614650
NM_001540.5(HSPB1):c.428+13G>T
NM_001540.5(HSPB1):c.428+5G>C
NM_001540.5(HSPB1):c.428C>A (p.Thr143Lys) rs748414486
NM_001540.5(HSPB1):c.429-7C>T rs375972376
NM_001540.5(HSPB1):c.438C>T (p.Pro146=) rs7805625
NM_001540.5(HSPB1):c.451A>C (p.Thr151Pro) rs771232749
NM_001540.5(HSPB1):c.452C>T (p.Thr151Ile) rs28937568
NM_001540.5(HSPB1):c.45C>A (p.Ser15Arg) rs780878780
NM_001540.5(HSPB1):c.476_477del (p.Pro159fs) rs1240900244
NM_001540.5(HSPB1):c.490A>G (p.Thr164Ala) rs1032400275
NM_001540.5(HSPB1):c.498G>A (p.Glu166=) rs148357753
NM_001540.5(HSPB1):c.501C>T (p.Ala167=) rs529095936
NM_001540.5(HSPB1):c.504C>T (p.Pro168=) rs866382696
NM_001540.5(HSPB1):c.505del (p.Met169fs) rs1583966508
NM_001540.5(HSPB1):c.512del (p.Lys171fs) rs1554614680
NM_001540.5(HSPB1):c.522_523delinsCT (p.Gln175Ter) rs1060503021
NM_001540.5(HSPB1):c.523C>T (p.Gln175Ter) rs863225023
NM_001540.5(HSPB1):c.532G>T (p.Glu178Ter) rs150110356
NM_001540.5(HSPB1):c.538A>C (p.Thr180Pro)
NM_001540.5(HSPB1):c.539C>G (p.Thr180Ser) rs1422978230
NM_001540.5(HSPB1):c.539C>T (p.Thr180Ile) rs1422978230
NM_001540.5(HSPB1):c.544C>T (p.Pro182Ser) rs104894020
NM_001540.5(HSPB1):c.554T>C (p.Phe185Ser) rs777225392
NM_001540.5(HSPB1):c.562C>T (p.Arg188Trp) rs772767500
NM_001540.5(HSPB1):c.567C>T (p.Ala189=) rs528301561
NM_001540.5(HSPB1):c.572_584del (p.Leu191fs) rs771457306
NM_001540.5(HSPB1):c.573T>C (p.Leu191=) rs34771861
NM_001540.5(HSPB1):c.607_609GCC[1] (p.Ala204del) rs1276065076
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) rs367857772
NM_001540.5(HSPB1):c.615G>A (p.Lys205=)
NM_001540.5(HSPB1):c.615G>T (p.Lys205Asn)
NM_001540.5(HSPB1):c.80G>C (p.Arg27Pro) rs367662394
NM_001540.5(HSPB1):c.80G>T (p.Arg27Leu) rs367662394
NM_001540.5(HSPB1):c.89A>C (p.Asp30Ala)
NM_001540.5(HSPB1):c.9G>A (p.Glu3=) rs77586767

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