ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease by Center of Genomic medicine, Geneva,University Hospital of Geneva

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_000166.6(GJB1):c.424C>T (p.Arg142Trp) rs104894810
NM_001127660.1(MFN2):c.720C>G (p.Phe240Leu) rs864622480
NM_138361.5(LRSAM1):c.2068T>C (p.Cys690Arg) rs879253755

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