ClinVar Miner

List of variants reported as uncertain significance for Congenital glaucoma by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000104.4(CYP1B1):c.487C>T (p.Arg163Cys) rs104894978 0.00016
NM_000104.4(CYP1B1):c.850C>T (p.Arg284Trp) rs368249322 0.00015
NM_000104.4(CYP1B1):c.239G>C (p.Arg80Pro) rs899277811 0.00014
NM_000104.4(CYP1B1):c.947A>T (p.Asp316Val) rs749521942 0.00003
NM_000104.4(CYP1B1):c.233C>A (p.Ala78Glu) rs1055845013 0.00001
NM_000104.4(CYP1B1):c.818T>G (p.Leu273Arg) rs1357141706 0.00001
NM_000104.4(CYP1B1):c.1043+6G>C rs1404755887
NM_000104.4(CYP1B1):c.1130A>G (p.Asn377Ser)
NM_000104.4(CYP1B1):c.1253C>T (p.Thr418Ile) rs1682424004
NM_000104.4(CYP1B1):c.1291C>T (p.Pro431Ser)
NM_000104.4(CYP1B1):c.1412T>A (p.Ile471Asn) rs147535955
NM_000104.4(CYP1B1):c.1421A>C (p.Glu474Ala) rs1272381382
NM_000104.4(CYP1B1):c.1426T>C (p.Ser476Pro) rs1682416281
NM_000104.4(CYP1B1):c.1434G>A (p.Met478Ile)
NM_000104.4(CYP1B1):c.1590T>G (p.Asp530Glu)
NM_000104.4(CYP1B1):c.1600C>A (p.Gln534Lys) rs1216032234
NM_000104.4(CYP1B1):c.20C>G (p.Pro7Arg)
NM_000104.4(CYP1B1):c.439G>C (p.Ala147Pro) rs1682502726
NM_000104.4(CYP1B1):c.694G>A (p.Gly232Arg)
NM_000104.4(CYP1B1):c.732G>T (p.Met244Ile)

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