ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease by Undiagnosed Diseases Network,NIH

Included ClinVar conditions (130):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NC_000017.10:g.14087933_15500645dup
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His) rs606231435

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