ClinVar Miner

List of variants reported as pathogenic for Noonan syndrome-like disorder with loose anagen hair 2 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952
NM_002709.3(PPP1CB):c.658C>T (p.Arg220Cys) rs1553311527

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