ClinVar Miner

List of variants studied for Skraban-Deardorff syndrome by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001379403.1(WDR26):c.1317T>G (p.Ser439Arg) rs1673963487
NM_001379403.1(WDR26):c.1458+1G>A rs1673733539

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