ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 2 by UCLA Clinical Genomics Center, UCLA

Included ClinVar conditions (60):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000530.8(MPZ):c.451C>A (p.Pro151Thr)
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg) rs121913586
NM_002047.4(GARS1):c.998A>T (p.Glu333Val) rs863224873
NM_018706.7(DHTKD1):c.2500C>T (p.Arg834Ter) rs770649540
NM_018972.2(GDAP1):c.[347T>C];[62delA]

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