ClinVar Miner

List of variants in gene DCTN1 studied for Charcot-Marie-Tooth disease

Included ClinVar conditions (134):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_004082.4(DCTN1):c.1270G>C (p.Asp424His)
NM_004082.4(DCTN1):c.2009A>T (p.Tyr670Phe)
NM_004082.4(DCTN1):c.2353C>T (p.Arg785Trp) rs121909344
NM_004082.4(DCTN1):c.3558G>A (p.Met1186Ile) rs200834352

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