ClinVar Miner

List of variants reported as pathogenic for Aarskog syndrome by Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_004463.3(FGD1):c.1143_1145del (p.Leu382del) rs1601954686
NM_004463.3(FGD1):c.1590T>A (p.Tyr530Ter) rs1601953552

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