ClinVar Miner

List of variants reported as benign for congenital glaucoma by Illumina Laboratory Services, Illumina

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000104.4(CYP1B1):c.*695G>T rs10916 0.76280
NM_000104.4(CYP1B1):c.*350C>A rs162562 0.67224
NM_000104.4(CYP1B1):c.1347T>C (p.Asp449=) rs1056837 0.49486
NM_000104.4(CYP1B1):c.*975A>G rs2855658 0.48745
NM_000104.4(CYP1B1):c.142C>G (p.Arg48Gly) rs10012 0.36324
NM_000428.3(LTBP2):c.2406T>C (p.Thr802=) rs699374 0.35704
NM_000104.4(CYP1B1):c.355G>T (p.Ala119Ser) rs1056827 0.35167
NM_000428.3(LTBP2):c.*824C>T rs7569 0.34968
NM_000104.4(CYP1B1):c.-1-12C>T rs2617266 0.28114
NM_000428.3(LTBP2):c.*1818C>T rs1052939 0.26277
NM_000104.4(CYP1B1):c.*2409A>T rs162549 0.18874
NM_000104.4(CYP1B1):c.729G>C (p.Val243=) rs9341249 0.06879
NM_000428.3(LTBP2):c.-232G>A rs61980926 0.06690
NM_000428.3(LTBP2):c.1287G>A (p.Leu429=) rs61738025 0.06415
NM_000428.3(LTBP2):c.956C>A (p.Pro319Gln) rs2304707 0.06364
NM_000104.4(CYP1B1):c.*1871C>T rs9341266 0.03671
NM_000428.3(LTBP2):c.2788+13C>T rs78258030 0.03459
NM_000428.3(LTBP2):c.*1957A>G rs73296215 0.03184
NM_000104.4(CYP1B1):c.564C>A (p.Gly188=) rs9341247 0.02411
NM_000428.3(LTBP2):c.4782G>A (p.Val1594=) rs2079631 0.02179
NM_000428.3(LTBP2):c.3262G>A (p.Gly1088Ser) rs61505039 0.01509
NM_000428.3(LTBP2):c.3333G>A (p.Thr1111=) rs61729544 0.00645
NM_000104.4(CYP1B1):c.*210dup rs4646431
NM_000104.4(CYP1B1):c.-97dup rs11379588

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