List of variants in gene PTPN11 reported as likely pathogenic for LEOPARD syndrome 1

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_002834.5(PTPN11):c.115G>A (p.Gly39Arg)	rs886041585	0.00001
NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr)	rs397507539
NM_002834.5(PTPN11):c.1472C>A (p.Pro491His)	rs397507540
NM_002834.5(PTPN11):c.1502G>A (p.Arg501Lys)	rs397507543
NM_002834.5(PTPN11):c.167T>C (p.Ile56Thr)	rs1052382672
NM_002834.5(PTPN11):c.213T>A (p.Phe71Leu)
NM_002834.5(PTPN11):c.691C>T (p.Arg231Ter)	rs2038154558
NM_002834.5(PTPN11):c.787T>A (p.Tyr263Asn)
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser)	rs397507527
NM_002834.5(PTPN11):c.853T>G (p.Phe285Val)	rs397507531
NM_002834.5(PTPN11):c.92C>G (p.Ala31Gly)	rs2037994433

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