List of variants reported as not provided for LEOPARD syndrome 1 by GeneReviews

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Total variants: 9

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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.1492C>T (p.Arg498Trp)	rs397507541	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.1493G>T (p.Arg498Leu)	rs397507542
NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro)	rs397507548
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu)	rs397507549
NM_002834.5(PTPN11):c.836A>C (p.Tyr279Ser)	rs121918456
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)	rs121918456

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