ClinVar Miner

List of variants studied for Lewy body dementia by OMIM

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_003085.5(SNCB):c.368C>A (p.Pro123His)	rs104893937	0.00021
NM_003085.5(SNCB):c.208G>A (p.Val70Met)	rs104893936	0.00001
NC_000004.12:g.(?_89724098)_(89927969_89934809)dup
NM_000345.4(SNCA):c.136G>A (p.Glu46Lys)	rs104893875

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