ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease by Human Genetics Research Center, Baqiyatallah University of Medical Sciences

Included ClinVar conditions (172):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_007289.4(MME):c.1564C>T (p.Gln522Ter) rs1553765316

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