ClinVar Miner

List of variants in gene NDRG1 reported as pathogenic for Charcot-Marie-Tooth disease

Included ClinVar conditions (127):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NC_000008.10:g.134265065_134271319dup
NG_007943.1:g.(43089_43830)_(47717_51712)dup
NM_001135242.1(NDRG1):c.442C>T (p.Arg148Ter) rs119483085
NM_006096.3(NDRG1):c.205+1G>A rs1060503092
NM_006096.3(NDRG1):c.538-1G>A

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