ClinVar Miner

List of variants reported as pathogenic for Charcot-Marie-Tooth disease type 2 by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (92):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter) rs145226920 0.00016
NM_002180.3(IGHMBP2):c.1082T>C (p.Leu361Pro) rs201060167 0.00008
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs) rs724159994
NM_007289.4(MME):c.1119_1127del (p.Trp373_Ile376delinsTer)
NM_007289.4(MME):c.467del (p.Pro156fs) rs749320057

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