List of variants reported as pathogenic for LEOPARD syndrome 1 by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_002834.5(PTPN11):c.1508G>A (p.Gly503Glu)	rs397507546	0.00001
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val)	rs397507529	0.00001
NM_002834.5(PTPN11):c.179G>T (p.Gly60Val)	rs397507509
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)	rs121918455

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