ClinVar Miner

List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease by UCLA Clinical Genomics Center, UCLA

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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NM_000530.8(MPZ):c.451C>A (p.Pro151Thr) rs754068936
NM_002047.4(GARS1):c.998A>T (p.Glu333Val) rs863224873
NM_018706.7(DHTKD1):c.2500C>T (p.Arg834Ter) rs770649540
NM_152296.5(ATP1A3):c.974G>A (p.Gly325Asp) rs863224847

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