ClinVar Miner

List of variants reported as not provided for Macular dystrophy, atypical vitelliform; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Deafness, autosomal dominant nonsyndromic sensorineural 17

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Total variants: 1
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HGVS dbSNP
NM_002473.5(MYH9):c.136C>T (p.Leu46Phe) rs147122501

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