ClinVar Miner

List of variants studied for juvenile-onset Parkinson disease by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (7):

Juvenile onset Parkinson disease 19A
Juvenile-onset Parkinson disease
Kufor-Rakeb syndrome
Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78; Parkinsonism due to ATP13A2 deficiency
Motor neuron disease; Juvenile-onset Parkinson disease
Parkinson disease 19B, early-onset

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

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_022089.4(ATP13A2):c.2859G>A (p.Thr953=)	rs144557304	0.00127
NM_022089.4(ATP13A2):c.839A>G (p.Lys280Arg)	rs148094721	0.00010

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