ClinVar Miner

List of variants reported as pathogenic for Charcot-Marie-Tooth disease type 4E

Included ClinVar conditions (2):
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Total variants: 7
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GRCh37/hg19 1q23.3(chr1:161255241-161276497)
NM_000399.5(EGR2):c.1146T>G (p.Ser382Arg) rs281865138
NM_000399.5(EGR2):c.1147G>T (p.Asp383Tyr) rs104894160
NM_000399.5(EGR2):c.803T>A (p.Ile268Asn) rs104894158
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser) rs121913603
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg) rs121913586

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