ClinVar Miner

List of variants reported as not provided for metabolic disease involving other neurotransmitter deficiency by GenomeConnect, ClinGen

Included ClinVar conditions (8):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly)	rs1799807	0.01259
NM_000055.4(BCHE):c.428G>A (p.Gly143Asp)	rs201820739	0.00035
NM_001367721.1(CASK):c.2392C>T (p.Gln798Ter)	rs749742837

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