ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type X by Institute of Human Genetics, University of Goettingen

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000166.6(GJB1):c.42C>G (p.Asn14Lys) rs1262031967
NM_005391.5(PDK3):c.836A>G (p.Glu279Gly) rs2148201759

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