List of variants reported as pathogenic for Glaucoma 3A

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Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His)	rs79204362	0.00125
NM_000104.4(CYP1B1):c.1064_1076del (p.Arg355fs)	rs72549380	0.00024
NM_000104.4(CYP1B1):c.171G>A (p.Trp57Ter)	rs72549387	0.00022
NM_000104.4(CYP1B1):c.1159G>A (p.Glu387Lys)	rs55989760	0.00018
NM_000104.4(CYP1B1):c.182G>A (p.Gly61Glu)	rs28936700	0.00017
NM_000104.4(CYP1B1):c.1168C>T (p.Arg390Cys)	rs148542782	0.00013
NM_000104.4(CYP1B1):c.1169G>A (p.Arg390His)	rs56010818	0.00008
NM_000104.4(CYP1B1):c.1405C>T (p.Arg469Trp)	rs28936701	0.00005
NM_000104.4(CYP1B1):c.1267A>T (p.Asn423Tyr)	rs104893629	0.00001
NM_000104.4(CYP1B1):c.694G>C (p.Gly232Arg)	rs104893628	0.00001
NC_000002.12:g.38012214_38131522del
NM_000104.4(CYP1B1):c.1044-3C>G	rs761216127
NM_000104.4(CYP1B1):c.1093G>T (p.Gly365Trp)	rs55771538
NM_000104.4(CYP1B1):c.1120G>A (p.Asp374Asn)	rs104893622
NM_000104.4(CYP1B1):c.1168C>A (p.Arg390Ser)	rs148542782
NM_000104.4(CYP1B1):c.1200_1209dup (p.Thr404fs)	rs587778873
NM_000104.4(CYP1B1):c.1333T>A (p.Phe445Ile)	rs148233007
NM_000104.4(CYP1B1):c.1460T>C (p.Leu487Pro)	rs1682415237
NM_000104.4(CYP1B1):c.1536_1541del (p.Pro513_Lys514del)	rs751768343
NM_000104.4(CYP1B1):c.174del (p.Pro58_Leu59insTer)	rs2125316417
NM_000104.4(CYP1B1):c.434_443del (p.Arg145fs)	rs2125316235
NM_000104.4(CYP1B1):c.535del (p.Ala179fs)	rs771076928
NM_000104.4(CYP1B1):c.783C>A (p.Phe261Leu)	rs1558603396
NM_000104.4(CYP1B1):c.83C>A (p.Ser28Ter)	rs780002791
NM_000104.4(CYP1B1):c.868dup (p.Arg290fs)	rs587778875
NM_000104.4(CYP1B1):c.9del (p.Ser4fs)
NM_000428.3(LTBP2):c.5376del (p.Cys1793fs)	rs137854895
NM_012293.3(PXDN):c.1838-2A>G	rs2546904328
NM_015692.5(CPAMD8):c.3798_3861+1759del

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