ClinVar Miner

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

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Total variants: 17
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NM_001540.5(HSPB1):c.100G>A (p.Gly34Arg)
NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu) rs557327165
NM_001540.5(HSPB1):c.121G>A (p.Glu41Lys)
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.404C>A (p.Ser135Tyr) rs28939680
NM_001540.5(HSPB1):c.404C>G (p.Ser135Cys)
NM_001540.5(HSPB1):c.404C>T (p.Ser135Phe) rs28939680
NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu) rs863225022
NM_001540.5(HSPB1):c.421A>C (p.Lys141Gln)
NM_001540.5(HSPB1):c.476_477del (p.Pro159fs)
NM_001540.5(HSPB1):c.490A>G (p.Thr164Ala)
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.562C>T (p.Arg188Trp)
NM_001540.5(HSPB1):c.572_584del (p.Leu191fs) rs771457306

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