ClinVar Miner

List of variants reported as likely pathogenic for Glaucoma 3A; Glaucoma 3, primary infantile, B; Anterior segment dysgenesis 6 by Fulgent Genetics, Fulgent Genetics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000104.4(CYP1B1):c.578C>T (p.Pro193Leu)	rs529769268	0.00001
NM_000104.4(CYP1B1):c.1099dup (p.Asp367fs)	rs2125314883
NM_000104.4(CYP1B1):c.1536_1541del (p.Pro513_Lys514del)	rs751768343

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