ClinVar Miner

List of variants in gene PMP22 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_000304.4(PMP22):c.138del (p.Ser47fs)	rs864622180
NM_000304.4(PMP22):c.256C>T (p.Gln86Ter)
NM_000304.4(PMP22):c.76del (p.Ser26fs)

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