ClinVar Miner

List of variants reported as likely pathogenic for Noonan syndrome-like disorder with loose anagen hair 2 by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_002709.3(PPP1CB):c.493G>C (p.Asp165His)

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