List of variants in gene PTPN11 reported as pathogenic by ClinGen RASopathy Variant Curation Expert Panel

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_002834.5(PTPN11):c.781C>T (p.Leu261Phe)	rs397507525	0.00003
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.166A>G (p.Ile56Val)	rs397507504	0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)	rs121918459	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.1529A>C (p.Gln510Pro)	rs121918470
NM_002834.5(PTPN11):c.1530G>C (p.Gln510His)	rs397507550
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp)	rs121918460
NM_002834.5(PTPN11):c.205G>C (p.Glu69Gln)	rs397507511
NM_002834.5(PTPN11):c.209A>G (p.Lys70Arg)	rs397516801
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)	rs397507520

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