ClinVar Miner

List of variants reported as likely benign for CYP1B1-related glaucoma with or without anterior segment dysgenesis by Illumina Laboratory Services, Illumina

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000104.4(CYP1B1):c.1358A>G (p.Asn453Ser) rs1800440 0.11965
NM_000428.3(LTBP2):c.*1873C>G rs77847288 0.04063
NM_000428.3(LTBP2):c.2715C>T (p.Arg905=) rs7145480 0.02571
NM_000428.3(LTBP2):c.3093C>T (p.Ser1031=) rs45473602 0.02563
NM_000104.4(CYP1B1):c.-1-14C>T rs4987134 0.02460
NM_000104.4(CYP1B1):c.*2371T>C rs9309020 0.02296
NM_000428.3(LTBP2):c.*2153T>C rs113879332 0.02134
NM_000428.3(LTBP2):c.4263G>A (p.Ala1421=) rs61738017 0.01972
NM_000428.3(LTBP2):c.1021+14G>A rs150408645 0.01681
NM_000428.3(LTBP2):c.3852C>T (p.Arg1284=) rs61736977 0.01652
NM_000104.4(CYP1B1):c.1328C>G (p.Ala443Gly) rs4986888 0.01612
NM_000428.3(LTBP2):c.*2463G>T rs10141546 0.01598
NM_000428.3(LTBP2):c.*2044G>A rs73296214 0.01534
NM_000104.4(CYP1B1):c.*926A>C rs9341261 0.01416
NM_000428.3(LTBP2):c.915G>A (p.Thr305=) rs60337900 0.01390
NM_000104.4(CYP1B1):c.*2158T>C rs112948057 0.01121
NM_000104.4(CYP1B1):c.*2261A>C rs77534033 0.00985
NM_000428.3(LTBP2):c.1553G>T (p.Ser518Ile) rs137854857 0.00812
NM_000428.3(LTBP2):c.4089C>T (p.Asn1363=) rs141318496 0.00600
NM_000104.4(CYP1B1):c.685G>A (p.Glu229Lys) rs57865060 0.00478
NM_000104.4(CYP1B1):c.241T>A (p.Tyr81Asn) rs9282671 0.00362
NM_000104.4(CYP1B1):c.*1853G>T rs9341265 0.00338
NM_000428.3(LTBP2):c.4286G>A (p.Arg1429Gln) rs116914994 0.00133
NM_000428.3(LTBP2):c.4911C>T (p.Asn1637=) rs12586758 0.00074
NM_000428.3(LTBP2):c.110G>T (p.Arg37Met) rs934996

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