ClinVar Miner

List of variants reported as pathogenic for Genitopatellar syndrome; Blepharophimosis - intellectual disability syndrome, SBBYS type by Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_012330.4(KAT6B):c.3172C>T (p.Arg1058Ter)	rs1554843815

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