ClinVar Miner

List of variants studied for Lewy body dementia by Juno Genomics, Hangzhou Juno Genomics, Inc

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_000157.4(GBA1):c.928A>G (p.Ser310Gly)	rs1057942	0.00004
NM_000157.4(GBA1):c.259C>T (p.Arg87Trp)	rs1141814	0.00001
NM_000157.4(GBA1):c.604C>T (p.Arg202Ter)	rs1009850780	0.00001
NM_000157.4(GBA1):c.83T>C (p.Leu28Ser)
NM_000157.4(GBA1):c.907C>A (p.Leu303Ile)

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