List of variants studied for Glaucoma 3A by OMIM

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Total variants: 15

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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.1159G>A (p.Glu387Lys)	rs55989760	0.00018
NM_000104.4(CYP1B1):c.182G>A (p.Gly61Glu)	rs28936700	0.00017
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
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.1200_1209dup (p.Thr404fs)	rs587778873
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.868dup (p.Arg290fs)	rs587778875

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