ClinVar Miner

List of variants studied for focal dystonia by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (8):

Blepharospasm
Cerebellar ataxia; Short stature; Hearing impairment; Difficulty walking; Oromandibular dystonia
Dystonia 23
Dystonic disorder; Tetraparesis; Oculogyric crisis
Global developmental delay; Hemiplegia; Oculogyric crisis
Seizure; Apnea; Delayed speech and language development; Hemiplegia; Oculogyric crisis
X-linked dystonia-parkinsonism
X-linked dystonia-parkinsonism; Intellectual disability, X-linked, syndromic 33

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

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NC_012920.1(MT-CO3):m.9355A>T	rs1556423663
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys)	rs387907281
NM_152296.5(ATP1A3):c.958G>C (p.Ala320Pro)	rs879255368

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