ClinVar Miner

List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease type 2 by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

Included ClinVar conditions (92):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_021625.5(TRPV4):c.935C>T (p.Ala312Val) rs751139506 0.00001
NM_001605.3(AARS1):c.1171C>T (p.Arg391Cys) rs147580372
NM_014874.4(MFN2):c.2129T>C (p.Leu710Pro) rs1557537223

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