ClinVar Miner

List of variants studied for Noonan syndrome-like disorder with loose anagen hair 2 by Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_002709.3(PPP1CB):c.545T>A (p.Met182Lys)

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