ClinVar Miner

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

Included ClinVar conditions (56):
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Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP
NC_000007.14:g.(?_76302496)_(76304193_?)dup
NM_001540.3(HSPB1):c.277G>A (p.Asp93Asn) rs777201941
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.202G>C (p.Val68Leu) rs757158514
NM_001540.4(HSPB1):c.20C>G (p.Pro7Arg)
NM_001540.4(HSPB1):c.229C>T (p.Leu77Phe) rs1231796327
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.364G>A (p.Gly122Ser)
NM_001540.4(HSPB1):c.365-6C>G rs200902768
NM_001540.4(HSPB1):c.369G>C (p.Lys123Asn) rs755233365
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.383A>G (p.Gln128Arg) rs558882005
NM_001540.4(HSPB1):c.403T>G (p.Ser135Ala)
NM_001540.4(HSPB1):c.451A>C (p.Thr151Pro) rs771232749
NM_001540.4(HSPB1):c.554T>C (p.Phe185Ser) rs777225392
NM_001540.4(HSPB1):c.610G>A (p.Ala204Thr) rs367857772

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