ClinVar Miner

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

Included ClinVar conditions (127):
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Gene type:
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Total variants: 64
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HGVS dbSNP
NC_000007.14:g.(?_76302496)_(76304193_?)dup
NC_000007.14:g.(?_76303782)_(76304193_?)del
NC_000007.14:g.(?_76303802)_(76304173_?)del
NM_001540.3(HSPB1):c.116C>T (p.Pro39Leu) rs557327165
NM_001540.3(HSPB1):c.250G>C (p.Gly84Arg) rs770272088
NM_001540.3(HSPB1):c.277G>A (p.Asp93Asn) rs777201941
NM_001540.3(HSPB1):c.379C>T (p.Arg127Trp) rs29001571
NM_001540.3(HSPB1):c.404C>A (p.Ser135Tyr) rs28939680
NM_001540.3(HSPB1):c.404C>T (p.Ser135Phe) rs28939680
NM_001540.3(HSPB1):c.407G>T (p.Arg136Leu) rs863225022
NM_001540.3(HSPB1):c.523C>T (p.Gln175Ter) rs863225023
NM_001540.3(HSPB1):c.539C>T (p.Thr180Ile) rs1422978230
NM_001540.3(HSPB1):c.80G>C (p.Arg27Pro) rs367662394
NM_001540.4(HSPB1):c.139G>A (p.Gly47Ser) rs778311776
NM_001540.4(HSPB1):c.16G>A (p.Val6Ile) rs1049324
NM_001540.4(HSPB1):c.178C>T (p.Pro60Ser) rs61751217
NM_001540.4(HSPB1):c.202G>C (p.Val68Leu) rs757158514
NM_001540.4(HSPB1):c.204G>C (p.Val68=) rs1554614462
NM_001540.4(HSPB1):c.20C>G (p.Pro7Arg)
NM_001540.4(HSPB1):c.229C>T (p.Leu77Phe) rs1231796327
NM_001540.4(HSPB1):c.243C>T (p.Leu81=) rs1478776061
NM_001540.4(HSPB1):c.24C>T (p.Phe8=) rs201769668
NM_001540.4(HSPB1):c.257C>T (p.Ser86Leu) rs749378020
NM_001540.4(HSPB1):c.266G>A (p.Arg89Gln) rs1060503022
NM_001540.4(HSPB1):c.29T>A (p.Leu10His) rs772216758
NM_001540.4(HSPB1):c.305A>T (p.Asn102Ile) rs765142574
NM_001540.4(HSPB1):c.318G>C (p.Pro106=) rs750349055
NM_001540.4(HSPB1):c.364G>A (p.Gly122Ser)
NM_001540.4(HSPB1):c.365-5C>T rs368936457
NM_001540.4(HSPB1):c.365-6C>G rs200902768
NM_001540.4(HSPB1):c.365-7C>G rs201897299
NM_001540.4(HSPB1):c.369G>C (p.Lys123Asn) rs755233365
NM_001540.4(HSPB1):c.36G>T (p.Arg12=) rs145369859
NM_001540.4(HSPB1):c.372C>G (p.His124Gln) rs145243219
NM_001540.4(HSPB1):c.376_378delGAG (p.Glu126del) rs1554614633
NM_001540.4(HSPB1):c.37G>A (p.Gly13Ser)
NM_001540.4(HSPB1):c.380G>A (p.Arg127Gln) rs587781250
NM_001540.4(HSPB1):c.380G>T (p.Arg127Leu) rs587781250
NM_001540.4(HSPB1):c.383A>G (p.Gln128Arg) rs558882005
NM_001540.4(HSPB1):c.403T>G (p.Ser135Ala)
NM_001540.4(HSPB1):c.406C>T (p.Arg136Trp) rs28939681
NM_001540.4(HSPB1):c.418C>G (p.Arg140Gly) rs121909112
NM_001540.4(HSPB1):c.429-7C>T rs375972376
NM_001540.4(HSPB1):c.451A>C (p.Thr151Pro) rs771232749
NM_001540.4(HSPB1):c.45C>A (p.Ser15Arg) rs780878780
NM_001540.4(HSPB1):c.522_523delGCinsCT (p.Gln175Ter) rs1060503021
NM_001540.4(HSPB1):c.532G>T (p.Glu178Ter) rs150110356
NM_001540.4(HSPB1):c.554T>C (p.Phe185Ser) rs777225392
NM_001540.4(HSPB1):c.567C>T (p.Ala189=) rs528301561
NM_001540.4(HSPB1):c.573T>C (p.Leu191=) rs34771861
NM_001540.4(HSPB1):c.610G>A (p.Ala204Thr) rs367857772
NM_001540.4(HSPB1):c.99C>T (p.Phe33=) rs762032846
NM_001540.4(HSPB1):c.9G>A (p.Glu3=) rs77586767
NM_001540.5(HSPB1):c.100G>A (p.Gly34Arg)
NM_001540.5(HSPB1):c.121G>A (p.Glu41Lys)
NM_001540.5(HSPB1):c.171_172insGCGCCCT (p.Leu58Alafs)
NM_001540.5(HSPB1):c.250G>A (p.Gly84Arg)
NM_001540.5(HSPB1):c.365-13C>T
NM_001540.5(HSPB1):c.404C>G (p.Ser135Cys)
NM_001540.5(HSPB1):c.421A>C (p.Lys141Gln)
NM_001540.5(HSPB1):c.476_477del (p.Pro159Argfs)
NM_001540.5(HSPB1):c.490A>G (p.Thr164Ala)
NM_001540.5(HSPB1):c.505del (p.Met169Cysfs)
NM_001540.5(HSPB1):c.562C>T (p.Arg188Trp)

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