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
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000304.4(PMP22):c.138del (p.Ser47fs)	rs864622180
NM_000304.4(PMP22):c.179-2A>G	rs1597608225
NM_000304.4(PMP22):c.256C>T (p.Gln86Ter)	rs11545341
NM_000304.4(PMP22):c.327C>A (p.Cys109Ter)	rs863225028
NM_000304.4(PMP22):c.433del (p.Leu145fs)	rs1567698872
NM_000304.4(PMP22):c.76del (p.Ser26fs)	rs1597635540

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