List of variants reported as benign for CYP1B1-related glaucoma with or without anterior segment dysgenesis

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Total variants: 27

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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.1294= (p.Leu432=)	rs1056836	0.48746
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.1358A>G (p.Asn453Ser)	rs1800440	0.11965
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.4888+18G>A	rs73296217	0.01044
NM_000428.3(LTBP2):c.3333G>A (p.Thr1111=)	rs61729544	0.00645
NM_000428.3(LTBP2):c.785C>T (p.Pro262Leu)	rs143106228	0.00232
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His)	rs79204362	0.00125

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