ClinVar Miner

List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease by Inherited Neuropathy Consortium

Included ClinVar conditions (130):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_001136473.1(LITAF):c.146C>T (p.Thr49Met) rs141862602
NM_138773.4(SLC25A46):c.770G>A (p.Arg257Gln) rs1184021143

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