ClinVar Miner

List of variants reported as pathogenic for Cryptorchidism; Fetal growth restriction; Febrile seizure (within the age range of 3 months to 6 years); Functional abnormality of male internal genitalia; Microcephaly; Intellectual disability; Delayed gross motor development; Hyperammonemia by Human Genetics Department, Tarbiat Modares University

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_032793.5(MFSD2A):c.229-25_229-23del	rs1570238098

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