List of variants reported as pathogenic for LEOPARD syndrome 1 by OMIM

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)	rs121918457	0.00001
NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr)	rs121918468
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala)	rs121918469
NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro)	rs121918470
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)	rs121918456

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