ClinVar Miner

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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001540.5(HSPB1):c.380G>T (p.Arg127Leu)	rs587781250	0.00003
NM_001540.5(HSPB1):c.452C>T (p.Thr151Ile)	rs28937568

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