ClinVar Miner

List of variants studied for myoclonus-dystonia syndrome by Center of Genomic medicine, Geneva, University Hospital of Geneva

Included ClinVar conditions (3):

Myoclonic dystonia 11
Myoclonic dystonia 26
Myoclonus-dystonia syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_003919.3(SGCE):c.783dup (p.Phe262fs)	rs1189469219

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