ClinVar Miner

List of variants studied for CYP1B1-related glaucoma with or without anterior segment dysgenesis by OMIM

Included ClinVar conditions (10):
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Total variants: 24
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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.1405C>T (p.Arg469Trp) rs28936701 0.00004
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.2T>C (p.Met1Thr) rs72549389
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.830del (p.Phe276_Leu277insTer) rs766425037
NM_000104.4(CYP1B1):c.868dup (p.Arg290fs) rs587778875
NM_000428.3(LTBP2):c.1243_1256del (p.Glu415fs) rs1566635134
NM_000428.3(LTBP2):c.1417del (p.Leu473fs) rs1566634475
NM_000428.3(LTBP2):c.331C>T (p.Gln111Ter) rs121918356
NM_000428.3(LTBP2):c.412del (p.Ala138fs) rs1566660365
NM_000428.3(LTBP2):c.5376del (p.Cys1793fs) rs137854895
NM_000428.3(LTBP2):c.895C>T (p.Arg299Ter) rs121918355

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