ClinVar Miner

List of variants reported as pathogenic for CYP1B1-related glaucoma with or without anterior segment dysgenesis by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Included ClinVar conditions (10):

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_000104.4(CYP1B1):c.182G>A (p.Gly61Glu)	rs28936700	0.00017
NM_000104.4(CYP1B1):c.1405C>T (p.Arg469Trp)	rs28936701	0.00004
NM_000104.4(CYP1B1):c.434_443del (p.Arg145fs)	rs2125316235

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