ClinVar Miner

List of variants reported as likely benign for Peters anomaly by Paul Sabatier University EA-4555, Paul Sabatier University

Included ClinVar conditions (10):

ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPES
Aniridia 1; Foveal hypoplasia 1; Coloboma of optic nerve; Autosomal dominant keratitis; Isolated optic nerve hypoplasia; Irido-corneo-trabecular dysgenesis; 11p partial monosomy syndrome; Coloboma, ocular, autosomal dominant
Aniridia 1; Foveal hypoplasia 1; Coloboma of optic nerve; Autosomal dominant keratitis; Isolated optic nerve hypoplasia; Irido-corneo-trabecular dysgenesis; 11p partial monosomy syndrome; Congenital ocular coloboma
Aniridia 1; Irido-corneo-trabecular dysgenesis
Foveal hypoplasia 1; Irido-corneo-trabecular dysgenesis
Glaucoma 3A; Irido-corneo-trabecular dysgenesis
Irido-corneo-trabecular dysgenesis
Irido-corneo-trabecular dysgenesis; Anophthalmia-microphthalmia syndrome
Irido-corneo-trabecular dysgenesis; Glaucoma; Seizure; Small face; Intellectual disability; Peripheral arterial stenosis; Severe global developmental delay; Unilateral microphthalmos
Irido-corneo-trabecular dysgenesis; Rieger anomaly

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001379081.2(FREM1):c.1493G>A (p.Arg498Gln)	rs184394424	0.00107
NM_005245.4(FAT1):c.4336G>A (p.Val1446Ile)	rs200828005	0.00078
NM_001291303.3(FAT4):c.131A>C (p.Glu44Ala)	rs200221425	0.00049
NM_017449.5(EPHB2):c.787G>A (p.Val263Ile)	rs150803261	0.00009
NM_001365792.1(DAB1):c.1075G>A (p.Gly359Arg)	rs746363033	0.00002
NM_000966.6(RARG):c.245C>T (p.Pro82Leu)	rs769476878	0.00001
NM_014889.4(PITRM1):c.2420A>G (p.Lys807Arg)	rs869025266	0.00001
NM_006445.4(PRPF8):c.3527C>T (p.Ser1176Phe)	rs869025267

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