ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease X-linked dominant 1 by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (1):

Charcot-Marie-Tooth disease X-linked dominant 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000166.6(GJB1):c.619G>C (p.Ala207Pro)	rs2147946898
NM_000166.6(GJB1):c.646G>A (p.Ala216Thr)	rs2147947019
NM_000166.6(GJB1):c.73C>T (p.Leu25Phe)	rs1602348662

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