ClinVar Miner

List of variants reported as pathogenic for dystonia 5 by 3billion

Included ClinVar conditions (3):

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_000161.3(GCH1):c.250G>T (p.Glu84Ter)	rs755556239
NM_000161.3(GCH1):c.544C>T (p.Gln182Ter)
NM_000161.3(GCH1):c.607G>A (p.Gly203Arg)	rs988395114

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