List of variants reported as pathogenic for Charcot-Marie-Tooth disease by GeneReviews

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

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NC_000017.11:g.(?_14440201)_(15475424_?)dup
NC_012920.1(MT-ATP6):m.9185T>C	rs199476138
NM_000530.6(MPZ):c.[241C>T;337G>T]
NM_000530.8(MPZ):c.337G>T (p.Val113Phe)	rs281865126
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg)	rs121913586
NP_000521.1(MPZ):p.Asn116Ser

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