ClinVar Miner

List of variants in gene HSPB1 reported as pathogenic for Charcot-Marie-Tooth disease

Included ClinVar conditions (130):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu) rs557327165
NM_001540.5(HSPB1):c.171_172insGCGCCCT (p.Leu58fs)
NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg) rs770272088
NM_001540.5(HSPB1):c.379C>T (p.Arg127Trp) rs29001571
NM_001540.5(HSPB1):c.380G>T (p.Arg127Leu) rs587781250
NM_001540.5(HSPB1):c.404C>A (p.Ser135Tyr) 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.452C>T (p.Thr151Ile) rs28937568
NM_001540.5(HSPB1):c.505del (p.Met169fs)
NM_001540.5(HSPB1):c.523C>T (p.Gln175Ter) rs863225023
NM_001540.5(HSPB1):c.539C>T (p.Thr180Ile) rs1422978230
NM_001540.5(HSPB1):c.544C>T (p.Pro182Ser) rs104894020

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