ClinVar Miner

List of variants reported as pathogenic for congenital glaucoma by Baylor Genetics

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
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.1310C>T (p.Pro437Leu) rs56175199 0.00005
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.1330C>T (p.Arg444Ter) rs377049098 0.00002
NM_000104.4(CYP1B1):c.1331G>A (p.Arg444Gln) rs72549376 0.00001
NM_000104.4(CYP1B1):c.517G>A (p.Glu173Lys) rs72481807 0.00001
NM_000104.4(CYP1B1):c.55C>T (p.Gln19Ter) rs72549388 0.00001
NM_000104.4(CYP1B1):c.840C>A (p.Cys280Ter) rs778202993 0.00001
NM_000104.4(CYP1B1):c.1023G>A (p.Trp341Ter)
NM_000104.4(CYP1B1):c.1168C>A (p.Arg390Ser)
NM_000104.4(CYP1B1):c.1200_1209dup (p.Thr404fs) rs587778873
NM_000104.4(CYP1B1):c.1345del (p.Asp449fs) rs749073455
NM_000104.4(CYP1B1):c.1390dup (p.Ser464fs) rs777515179
NM_000104.4(CYP1B1):c.1536_1541del (p.Pro513_Lys514del) rs751768343
NM_000104.4(CYP1B1):c.181G>A (p.Gly61Arg) rs1682512619
NM_000104.4(CYP1B1):c.317C>A (p.Ala106Asp)
NM_000104.4(CYP1B1):c.535del (p.Ala179fs) rs771076928
NM_000104.4(CYP1B1):c.797GCAACTTCA[1] (p.Ser269_Phe271del) rs72466462
NM_000104.4(CYP1B1):c.830del (p.Phe276_Leu277insTer) rs766425037
NM_000104.4(CYP1B1):c.868del (p.Arg290fs)
NM_000104.4(CYP1B1):c.868dup (p.Arg290fs) rs587778875
NM_000104.4(CYP1B1):c.970_971dup (p.Thr325fs) rs765666893

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