ClinVar Miner

List of variants studied for CYP1B1-related glaucoma with or without anterior segment dysgenesis by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (10):

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_000104.4(CYP1B1):c.1103G>A (p.Arg368His)	rs79204362	0.00125
NM_000428.3(LTBP2):c.2525C>T (p.Thr842Ile)	rs552098847	0.00010
NM_000104.4(CYP1B1):c.1169G>A (p.Arg390His)	rs56010818	0.00008
NM_000104.4(CYP1B1):c.1044-2A>G	rs1389588817
NM_000104.4(CYP1B1):c.92C>A (p.Ala31Asp)

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