ClinVar Miner

List of variants reported as likely pathogenic for Syndromic X-linked intellectual disability Nascimento type by Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_003336.4(UBE2A):c.242-3_244del	rs2053456972
NM_003336.4(UBE2A):c.299ATG[1] (p.Asp101del)	rs2053457413

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