ClinVar Miner

List of variants studied for Hereditary glaucoma, primary closed-angle by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs) rs398122391 0.00029
NM_001379500.1(COL18A1):c.3028G>A (p.Gly1010Ser) rs1057518766 0.00002
NM_001379500.1(COL18A1):c.3833G>T (p.Gly1278Val) rs2037653033
NM_001379500.1(COL18A1):c.992dup (p.Arg332fs) rs2035718735

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