ClinVar Miner

List of variants reported as pathogenic for Short stature, Dauber-Argente type

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_020318.3(PAPPA2):c.1928_1929insAT (p.Asp643fs)	rs2102651720
NM_020318.3(PAPPA2):c.2656G>T (p.Glu886Ter)	rs2102813590
NM_020318.3(PAPPA2):c.3098C>T (p.Ala1033Val)	rs2102818589

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