ClinVar Miner

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

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_000166.6(GJB1):c.281A>G (p.His94Arg) rs1602349095
NM_000166.6(GJB1):c.392_393TG[1] (p.Trp132fs) rs1555937168
NM_000166.6(GJB1):c.466_467CT[1] (p.Tyr157fs) rs1602349420
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg) rs281865127
NM_001005360.2(DNM2):c.1105C>T (p.Arg369Trp) rs121909090
NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp) rs864309503
NM_006070.6(TFG):c.854C>T (p.Pro285Leu) rs207482230
NM_014874.4(MFN2):c.746C>T (p.Ser249Phe) rs794729198
NM_024577.4(SH3TC2):c.2189del (p.Gly730fs) rs1580900473
NM_024577.4(SH3TC2):c.974del (p.Asn325fs) rs1580907885
NM_030962.3(SBF2):c.5203C>T (p.Gln1735Ter) rs1590076969

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