ClinVar Miner

List of variants in gene PTPN11 studied for Noonan syndrome 3

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP
NM_002834.4(PTPN11):c.1381G>A (p.Ala461Thr) rs121918468
NM_002834.4(PTPN11):c.1528C>G (p.Gln510Glu) rs397507549
NM_002834.4(PTPN11):c.1529A>C (p.Gln510Pro) rs121918470
NM_002834.4(PTPN11):c.174C>A (p.Asn58Lys) rs397507506
NM_002834.4(PTPN11):c.181G>A (p.Asp61Asn) rs397507510
NM_002834.4(PTPN11):c.181G>C (p.Asp61His) rs397507510
NM_002834.4(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459
NM_002834.4(PTPN11):c.206A>T (p.Glu69Val) rs727503380
NM_002834.4(PTPN11):c.211T>C (p.Phe71Leu) rs397507512
NM_002834.4(PTPN11):c.214G>C (p.Ala72Pro) rs121918453
NM_002834.4(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.4(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.4(PTPN11):c.328G>A (p.Glu110Lys) rs397507518
NM_002834.4(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.4(PTPN11):c.853T>C (p.Phe285Leu) rs397507531
NM_002834.4(PTPN11):c.855T>G (p.Phe285Leu) rs397516810
NM_002834.4(PTPN11):c.923A>G (p.Asn308Ser) rs121918455

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.