ClinVar Miner

List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease by Institute of Human Genetics,Klinikum rechts der Isar

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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NM_002972.4(SBF1):c.3826+1G>A rs1009209509
NM_014874.3(MFN2):c.1252C>T (p.Arg418Ter) rs1057517987
NM_014874.3(MFN2):c.1839dup (p.Thr614fs) rs1553145402
NM_021625.4(TRPV4):c.935C>T (p.Ala312Val) rs751139506
NM_022489.4(INF2):c.226CTG[2] (p.Leu78del) rs0
NM_138773.4(SLC25A46):c.736A>T (p.Arg246Ter) rs1554093168
NM_152296.5(ATP1A3):c.2543G>C (p.Gly848Ala) rs1599705281

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