ClinVar Miner

List of variants in gene HSPB8 reported as pathogenic for Charcot-Marie-Tooth disease

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Total variants: 3
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HGVS dbSNP
NM_014365.2(HSPB8):c.421A>G (p.Lys141Glu) rs104894351
NM_014365.2(HSPB8):c.423G>C (p.Lys141Asn) rs104894345
NM_014365.2(HSPB8):c.423G>T (p.Lys141Asn) rs104894345

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