ClinVar Miner

List of variants reported as pathogenic for Noonan syndrome by Equipe Genetique des Anomalies du Developpement,Université de Bourgogne

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_002834.4(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.4(PTPN11):c.922A>G (p.Asn308Asp) rs28933386

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