ClinVar Miner

List of variants reported as likely pathogenic for Hereditary glaucoma, primary closed-angle by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001379500.1(COL18A1):c.3028G>A (p.Gly1010Ser)	rs1057518766	0.00002
NM_001379500.1(COL18A1):c.992dup (p.Arg332fs)	rs2035718735

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