List of variants in gene PTPN11 reported as likely pathogenic for hematologic disorder

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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: 17

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HGVS	dbSNP	gnomAD frequency
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)	rs28933386	0.00001
NM_002834.5(PTPN11):c.1232C>T (p.Thr411Met)	rs121918467
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.1508G>T (p.Gly503Val)	rs397507546
NM_002834.5(PTPN11):c.167T>C (p.Ile56Thr)	rs1052382672
NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr)	rs121918453
NM_002834.5(PTPN11):c.215C>A (p.Ala72Asp)	rs121918454
NM_002834.5(PTPN11):c.215C>T (p.Ala72Val)	rs121918454
NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys)	rs121918464
NM_002834.5(PTPN11):c.227A>C (p.Glu76Ala)	rs121918465
NM_002834.5(PTPN11):c.227A>G (p.Glu76Gly)	rs121918465
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

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