ClinVar Miner

List of variants studied for Smith-Magenis syndrome by Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_030665.4(RAI1):c.-148-13952_-148-10583del
NM_030665.4(RAI1):c.3272C>A (p.Ala1091Asp)	rs2143002601

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