ClinVar Miner

List of variants studied for Lewy body dementia by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Included ClinVar conditions (5):

Lewy body dementia
Lewy body dementia; Autosomal dominant Parkinson disease 1
Lewy body dementia; Autosomal dominant Parkinson disease 1; Autosomal dominant Parkinson disease 4
Lewy body dementia; Gaucher disease type I; Gaucher disease type II; Gaucher disease type III; Gaucher disease perinatal lethal; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Parkinson disease, late-onset
Lewy body dementia; Parkinson disease, late-onset

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
NM_000157.4(GBA1):c.754T>A (p.Phe252Ile)	rs381737	0.00001
NM_000157.4(GBA1):c.1393T>G (p.Phe465Val)
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)	rs421016

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