ClinVar Miner

List of variants reported as pathogenic for Lewy body dementia by Mendelics

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

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)	rs76763715	0.00191
NM_000157.4(GBA1):c.222_224del (p.Thr75del)	rs761621516	0.00016
NM_000157.4(GBA1):c.259C>T (p.Arg87Trp)	rs1141814	0.00001

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