List of variants reported as pathogenic for congenital glaucoma by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000104.4(CYP1B1):c.1159G>A (p.Glu387Lys)	rs55989760	0.00018
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	0.00004
NM_000104.4(CYP1B1):c.1063C>T (p.Arg355Ter)	rs72549381	0.00003
NM_000104.4(CYP1B1):c.1090G>A (p.Val364Met)	rs72549379	0.00002
NM_000104.4(CYP1B1):c.517G>A (p.Glu173Lys)	rs72481807	0.00001
NM_000104.4(CYP1B1):c.1168C>A (p.Arg390Ser)
NM_000104.4(CYP1B1):c.277_306delinsGG (p.Pro93fs)
NM_000104.4(CYP1B1):c.317C>A (p.Ala106Asp)
NM_000104.4(CYP1B1):c.710C>A (p.Ala237Glu)	rs2125316074
NM_000104.4(CYP1B1):c.970_971dup (p.Thr325fs)	rs765666893
NM_000104.4(CYP1B1):c.988_989delinsTT (p.Ala330Phe)

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