ClinVar Miner

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
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Total variants: 3

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HGVS	dbSNP
NM_001540.5(HSPB1):c.171_172insGCGCCCT (p.Leu58fs)
NM_001540.5(HSPB1):c.380G>T (p.Arg127Leu)	rs587781250
NM_001540.5(HSPB1):c.505del (p.Met169fs)

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