ClinVar Miner

List of variants reported as pathogenic for Charcot-Marie-Tooth disease axonal type 2C by Fulgent Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP
NM_021625.4(TRPV4):c.806G>A (p.Arg269His) rs267607144

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