ClinVar Miner

List of variants reported as pathogenic for Charcot-Marie-Tooth disease recessive intermediate a by Institute of Human Genetics,Cologne University

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_001362931.2(GDAP1):c.694+932_694+1314del
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) rs104894080
NM_018972.4(GDAP1):c.769C>T (p.Arg257Ter) rs770501034

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