ClinVar Miner

List of variants reported as likely benign for congenital glaucoma by Invitae

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 197
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HGVS dbSNP gnomAD frequency
NM_000104.4(CYP1B1):c.1078T>C (p.Leu360=) rs141245683 0.00121
NM_000104.4(CYP1B1):c.917G>A (p.Gly306Glu) rs372321135 0.00039
NM_000104.4(CYP1B1):c.474C>A (p.Arg158=) rs571087769 0.00036
NM_000104.4(CYP1B1):c.1089C>T (p.Val363=) rs148461905 0.00014
NM_000104.4(CYP1B1):c.1033C>T (p.Leu345Phe) rs66583685 0.00012
NM_000104.4(CYP1B1):c.46C>T (p.Leu16=) rs9341246 0.00009
NM_000104.4(CYP1B1):c.572T>G (p.Leu191Arg) rs368699207 0.00007
NM_000104.4(CYP1B1):c.701C>T (p.Thr234Met) rs375391843 0.00007
NM_000104.4(CYP1B1):c.711G>T (p.Ala237=) rs780375338 0.00007
NM_000104.4(CYP1B1):c.653A>T (p.Asp218Val) rs72549383 0.00006
NM_000104.4(CYP1B1):c.1047T>C (p.Tyr349=) rs775908245 0.00005
NM_000104.4(CYP1B1):c.45G>T (p.Pro15=) rs145847992 0.00005
NM_000104.4(CYP1B1):c.918G>A (p.Gly306=) rs748708268 0.00004
NM_000104.4(CYP1B1):c.1362G>A (p.Lys454=) rs760132470 0.00003
NM_000104.4(CYP1B1):c.1464T>G (p.Ala488=) rs1320739951 0.00002
NM_000104.4(CYP1B1):c.141C>G (p.Leu47=) rs749463699 0.00001
NM_000104.4(CYP1B1):c.498C>G (p.Leu166=) rs775055418 0.00001
NM_000104.4(CYP1B1):c.507C>T (p.His169=) rs1319511362 0.00001
NM_000104.4(CYP1B1):c.1011C>A (p.Thr337=)
NM_000104.4(CYP1B1):c.1011C>T (p.Thr337=)
NM_000104.4(CYP1B1):c.1015C>T (p.Leu339=)
NM_000104.4(CYP1B1):c.1029C>G (p.Leu343=)
NM_000104.4(CYP1B1):c.1029C>T (p.Leu343=)
NM_000104.4(CYP1B1):c.1043+16G>T
NM_000104.4(CYP1B1):c.1043+18C>G
NM_000104.4(CYP1B1):c.1043+7C>A
NM_000104.4(CYP1B1):c.1043+8C>A
NM_000104.4(CYP1B1):c.1044-11A>C
NM_000104.4(CYP1B1):c.1044-16A>T
NM_000104.4(CYP1B1):c.1044-19C>T
NM_000104.4(CYP1B1):c.1044-27TC[3]
NM_000104.4(CYP1B1):c.1044-8C>T
NM_000104.4(CYP1B1):c.1050T>G (p.Pro350=)
NM_000104.4(CYP1B1):c.1059G>A (p.Gln353=)
NM_000104.4(CYP1B1):c.1068G>A (p.Val356=)
NM_000104.4(CYP1B1):c.1068G>T (p.Val356=)
NM_000104.4(CYP1B1):c.1110T>G (p.Pro370=)
NM_000104.4(CYP1B1):c.1113T>C (p.Cys371=)
NM_000104.4(CYP1B1):c.1137C>G (p.Pro379=)
NM_000104.4(CYP1B1):c.1140T>C (p.Tyr380=)
NM_000104.4(CYP1B1):c.1143C>T (p.Val381=)
NM_000104.4(CYP1B1):c.1149C>A (p.Ala383=)
NM_000104.4(CYP1B1):c.1149C>T (p.Ala383=)
NM_000104.4(CYP1B1):c.1170C>T (p.Arg390=)
NM_000104.4(CYP1B1):c.1182T>C (p.Phe394=)
NM_000104.4(CYP1B1):c.1185G>T (p.Val395=)
NM_000104.4(CYP1B1):c.1191C>T (p.Val397=)
NM_000104.4(CYP1B1):c.1212T>C (p.Thr404=)
NM_000104.4(CYP1B1):c.1239C>T (p.His413=)
NM_000104.4(CYP1B1):c.1245C>T (p.Pro415=)
NM_000104.4(CYP1B1):c.1263T>C (p.Phe421=)
NM_000104.4(CYP1B1):c.127C>A (p.Arg43=)
NM_000104.4(CYP1B1):c.1299G>A (p.Lys433=)
NM_000104.4(CYP1B1):c.129G>C (p.Arg43=)
NM_000104.4(CYP1B1):c.12C>T (p.Ser4=)
NM_000104.4(CYP1B1):c.1308C>T (p.Asn436=)
NM_000104.4(CYP1B1):c.1311G>A (p.Pro437=)
NM_000104.4(CYP1B1):c.1335C>T (p.Phe445=)
NM_000104.4(CYP1B1):c.1336T>C (p.Leu446=)
NM_000104.4(CYP1B1):c.1338G>A (p.Leu446=)
NM_000104.4(CYP1B1):c.1344G>A (p.Lys448=) rs781513633
NM_000104.4(CYP1B1):c.1353C>T (p.Leu451=)
NM_000104.4(CYP1B1):c.135G>A (p.Arg45=)
NM_000104.4(CYP1B1):c.1377A>G (p.Arg459=)
NM_000104.4(CYP1B1):c.1380G>A (p.Val460=)
NM_000104.4(CYP1B1):c.1389T>C (p.Phe463=)
NM_000104.4(CYP1B1):c.1416C>A (p.Gly472=)
NM_000104.4(CYP1B1):c.1416C>T (p.Gly472=)
NM_000104.4(CYP1B1):c.141_142inv (p.Arg48Gly)
NM_000104.4(CYP1B1):c.142C>A (p.Arg48=)
NM_000104.4(CYP1B1):c.1446C>G (p.Leu482=)
NM_000104.4(CYP1B1):c.144G>C (p.Arg48=)
NM_000104.4(CYP1B1):c.144G>T (p.Arg48=)
NM_000104.4(CYP1B1):c.1459C>T (p.Leu487=)
NM_000104.4(CYP1B1):c.1470G>A (p.Gln490=)
NM_000104.4(CYP1B1):c.1473C>T (p.Cys491=)
NM_000104.4(CYP1B1):c.147C>T (p.Ser49=)
NM_000104.4(CYP1B1):c.1497G>A (p.Glu499=)
NM_000104.4(CYP1B1):c.1500T>A (p.Pro500=)
NM_000104.4(CYP1B1):c.1500T>C (p.Pro500=)
NM_000104.4(CYP1B1):c.150G>A (p.Ala50=)
NM_000104.4(CYP1B1):c.1521T>C (p.Tyr507=)
NM_000104.4(CYP1B1):c.1530C>G (p.Thr510=)
NM_000104.4(CYP1B1):c.153C>A (p.Pro51=)
NM_000104.4(CYP1B1):c.153C>G (p.Pro51=)
NM_000104.4(CYP1B1):c.1542G>A (p.Lys514=)
NM_000104.4(CYP1B1):c.1545A>T (p.Ser515=)
NM_000104.4(CYP1B1):c.1556A>G (p.Asn519Ser)
NM_000104.4(CYP1B1):c.1557T>C (p.Asn519=)
NM_000104.4(CYP1B1):c.1563T>G (p.Thr521=)
NM_000104.4(CYP1B1):c.1590T>C (p.Asp530=) rs146770394
NM_000104.4(CYP1B1):c.159C>A (p.Gly53=)
NM_000104.4(CYP1B1):c.1614C>G (p.Ala538=)
NM_000104.4(CYP1B1):c.168G>A (p.Ala56=)
NM_000104.4(CYP1B1):c.168G>T (p.Ala56=)
NM_000104.4(CYP1B1):c.175C>T (p.Leu59=)
NM_000104.4(CYP1B1):c.177G>A (p.Leu59=)
NM_000104.4(CYP1B1):c.180C>A (p.Ile60=)
NM_000104.4(CYP1B1):c.180C>T (p.Ile60=)
NM_000104.4(CYP1B1):c.183A>G (p.Gly61=)
NM_000104.4(CYP1B1):c.186C>T (p.Asn62=)
NM_000104.4(CYP1B1):c.189G>A (p.Ala63=)
NM_000104.4(CYP1B1):c.189G>C (p.Ala63=)
NM_000104.4(CYP1B1):c.192G>T (p.Ala64=)
NM_000104.4(CYP1B1):c.195G>A (p.Ala65=)
NM_000104.4(CYP1B1):c.195G>T (p.Ala65=)
NM_000104.4(CYP1B1):c.201C>G (p.Gly67=)
NM_000104.4(CYP1B1):c.207G>C (p.Ala69=)
NM_000104.4(CYP1B1):c.216C>A (p.Leu72=)
NM_000104.4(CYP1B1):c.219G>C (p.Ser73=)
NM_000104.4(CYP1B1):c.21G>T (p.Pro7=)
NM_000104.4(CYP1B1):c.240C>T (p.Arg80=)
NM_000104.4(CYP1B1):c.243C>T (p.Tyr81=)
NM_000104.4(CYP1B1):c.246C>G (p.Gly82=)
NM_000104.4(CYP1B1):c.252T>C (p.Val84=)
NM_000104.4(CYP1B1):c.261C>T (p.Ile87=)
NM_000104.4(CYP1B1):c.279C>T (p.Pro93=)
NM_000104.4(CYP1B1):c.294T>C (p.Asn98=)
NM_000104.4(CYP1B1):c.297C>T (p.Gly99=)
NM_000104.4(CYP1B1):c.300G>A (p.Glu100=)
NM_000104.4(CYP1B1):c.306C>T (p.Ala102=)
NM_000104.4(CYP1B1):c.312C>T (p.His104=)
NM_000104.4(CYP1B1):c.321G>A (p.Leu107=)
NM_000104.4(CYP1B1):c.321G>C (p.Leu107=)
NM_000104.4(CYP1B1):c.336G>A (p.Ser112=)
NM_000104.4(CYP1B1):c.336G>C (p.Ser112=)
NM_000104.4(CYP1B1):c.336G>T (p.Ser112=)
NM_000104.4(CYP1B1):c.345C>T (p.Ala115=)
NM_000104.4(CYP1B1):c.366C>T (p.Ser122=)
NM_000104.4(CYP1B1):c.42C>T (p.Asn14=)
NM_000104.4(CYP1B1):c.435G>A (p.Arg145=)
NM_000104.4(CYP1B1):c.438C>T (p.Arg146=)
NM_000104.4(CYP1B1):c.462C>T (p.Asn154=)
NM_000104.4(CYP1B1):c.477G>A (p.Gln159=)
NM_000104.4(CYP1B1):c.48G>A (p.Leu16=)
NM_000104.4(CYP1B1):c.498C>T (p.Leu166=)
NM_000104.4(CYP1B1):c.501G>A (p.Glu167=)
NM_000104.4(CYP1B1):c.510G>C (p.Val170=)
NM_000104.4(CYP1B1):c.513G>A (p.Leu171=)
NM_000104.4(CYP1B1):c.519G>A (p.Glu173=)
NM_000104.4(CYP1B1):c.522G>A (p.Ala174=)
NM_000104.4(CYP1B1):c.531G>C (p.Leu177=)
NM_000104.4(CYP1B1):c.538C>T (p.Leu180=)
NM_000104.4(CYP1B1):c.540G>A (p.Leu180=)
NM_000104.4(CYP1B1):c.543G>A (p.Leu181=)
NM_000104.4(CYP1B1):c.573C>T (p.Leu191=)
NM_000104.4(CYP1B1):c.579G>A (p.Pro193=)
NM_000104.4(CYP1B1):c.588G>A (p.Leu196=)
NM_000104.4(CYP1B1):c.600C>A (p.Ala200=)
NM_000104.4(CYP1B1):c.600C>G (p.Ala200=)
NM_000104.4(CYP1B1):c.603G>A (p.Val201=)
NM_000104.4(CYP1B1):c.603G>C (p.Val201=)
NM_000104.4(CYP1B1):c.612C>T (p.Val204=)
NM_000104.4(CYP1B1):c.618T>C (p.Ser206=)
NM_000104.4(CYP1B1):c.660G>A (p.Glu220=)
NM_000104.4(CYP1B1):c.663C>T (p.Phe221=)
NM_000104.4(CYP1B1):c.66G>A (p.Thr22=)
NM_000104.4(CYP1B1):c.672G>C (p.Leu224=)
NM_000104.4(CYP1B1):c.681C>T (p.His227=)
NM_000104.4(CYP1B1):c.684C>T (p.Asn228=)
NM_000104.4(CYP1B1):c.696G>A (p.Gly232=)
NM_000104.4(CYP1B1):c.69C>G (p.Leu23=)
NM_000104.4(CYP1B1):c.69C>T (p.Leu23=)
NM_000104.4(CYP1B1):c.6C>A (p.Gly2=)
NM_000104.4(CYP1B1):c.705G>A (p.Val235=)
NM_000104.4(CYP1B1):c.708C>T (p.Gly236=)
NM_000104.4(CYP1B1):c.714C>T (p.Gly238=)
NM_000104.4(CYP1B1):c.720G>A (p.Leu240=)
NM_000104.4(CYP1B1):c.726C>T (p.Asp242=)
NM_000104.4(CYP1B1):c.753C>T (p.Pro251=)
NM_000104.4(CYP1B1):c.759G>A (p.Pro253=)
NM_000104.4(CYP1B1):c.762G>A (p.Val254=)
NM_000104.4(CYP1B1):c.783C>T (p.Phe261=)
NM_000104.4(CYP1B1):c.78C>G (p.Leu26=)
NM_000104.4(CYP1B1):c.78C>T (p.Leu26=)
NM_000104.4(CYP1B1):c.79C>T (p.Leu27=)
NM_000104.4(CYP1B1):c.807C>T (p.Ser269=)
NM_000104.4(CYP1B1):c.81G>C (p.Leu27=)
NM_000104.4(CYP1B1):c.834G>A (p.Arg278=)
NM_000104.4(CYP1B1):c.840C>T (p.Cys280=)
NM_000104.4(CYP1B1):c.84G>C (p.Ser28=)
NM_000104.4(CYP1B1):c.864C>G (p.Ala288=)
NM_000104.4(CYP1B1):c.867C>G (p.Pro289=)
NM_000104.4(CYP1B1):c.882C>T (p.Asp294=)
NM_000104.4(CYP1B1):c.900G>T (p.Ala300=)
NM_000104.4(CYP1B1):c.915C>G (p.Ala305=)
NM_000104.4(CYP1B1):c.915C>T (p.Ala305=)
NM_000104.4(CYP1B1):c.933T>G (p.Gly311=)
NM_000104.4(CYP1B1):c.939G>C (p.Ala313=)
NM_000104.4(CYP1B1):c.945G>T (p.Leu315=)
NM_000104.4(CYP1B1):c.958G>C (p.Val320Leu)
NM_000104.4(CYP1B1):c.960A>C (p.Val320=)
NM_000104.4(CYP1B1):c.963G>A (p.Pro321=)
NM_000104.4(CYP1B1):c.963G>C (p.Pro321=)
NM_000104.4(CYP1B1):c.96T>A (p.Thr32=)
NM_000104.4(CYP1B1):c.987C>T (p.Gly329=)
NM_000104.4(CYP1B1):c.993C>T (p.Ser331=)

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