ClinVar Miner

List of variants reported as pathogenic for partial deletion of chromosome 11 by Baylor Genetics

Included ClinVar conditions (11):

11p partial monosomy syndrome
11q partial monosomy syndrome
Aniridia 1; Drash syndrome; Frasier syndrome; Meacham syndrome; Mesothelioma, malignant; Nephrotic syndrome, type 4; Wilms tumor 1; 11p partial monosomy syndrome
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; Foveal hypoplasia 1; Isolated optic nerve hypoplasia; Irido-corneo-trabecular dysgenesis; 11p partial monosomy syndrome; Coloboma, ocular, autosomal dominant
Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome
Paris-Trousseau thrombocytopenia
Potocki-Shaffer syndrome
Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 11p13(chr11:31541617-31813509)
GRCh37/hg19 11q24.2-25(chr11:125446101-134904063)
GRCh37/hg19 11q25(chr11:133325079-134157243)

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