ClinVar Miner

List of intergenic variants reported as pathogenic for Muscular dystrophy; Seizure; Short chin; Feeding difficulties; High palate; Constipation; Eczematoid dermatitis; Hip dislocation; Abnormal facial shape; Anteverted nares; Downslanted palpebral fissures; Protruding ear; Specific learning disability; Sparse and thin eyebrow; Congenital diaphragmatic hernia; Talipes; Tachypnea; Abnormality of mouth shape; Hypotonia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
46;XX;t(7;13)(p13;q34)dn

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