List of variants reported as pathogenic for LEOPARD syndrome 1 by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)	rs376607329	0.00003
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)	rs121918457	0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)	rs121918459	0.00001
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val)	rs397507529	0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)	rs28933386	0.00001
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)	rs397507547
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp)	rs397507505
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn)	rs397507510
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp)	rs121918460
NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser)	rs121918453
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)	rs121918456

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