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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP
NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu)	rs557327165
NM_001540.5(HSPB1):c.153G>A (p.Trp51Ter)
NM_001540.5(HSPB1):c.171_172insGCGCCCT (p.Leu58fs)	rs1583964560
NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg)	rs770272088
NM_001540.5(HSPB1):c.380G>T (p.Arg127Leu)	rs587781250
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.505del (p.Met169fs)	rs1583966508

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