ClinVar Miner

List of variants in gene PTPN11 reported as likely pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002834.5(PTPN11):c.173A>G (p.Asn58Ser) rs751437780 0.00004
NM_002834.5(PTPN11):c.1282G>A (p.Val428Met) rs397507536 0.00003
NM_002834.5(PTPN11):c.794G>T (p.Arg265Leu) rs376607329 0.00003
NC_000012.12:g.(?_112477651)_(112478015_?)del
NM_002834.5(PTPN11):c.1447+1G>A
NM_002834.5(PTPN11):c.1448-1G>A rs2038713813
NM_002834.5(PTPN11):c.1448-2A>T rs2135916018
NM_002834.5(PTPN11):c.155C>T (p.Thr52Ile) rs397507503
NM_002834.5(PTPN11):c.171_173del (p.Gln57_Asn58delinsHis)
NM_002834.5(PTPN11):c.179G>T (p.Gly60Val) rs397507509
NM_002834.5(PTPN11):c.184T>A (p.Tyr62Asn) rs121918460
NM_002834.5(PTPN11):c.185A>C (p.Tyr62Ser)
NM_002834.5(PTPN11):c.206A>C (p.Glu69Ala)
NM_002834.5(PTPN11):c.214G>C (p.Ala72Pro) rs121918453
NM_002834.5(PTPN11):c.215C>T (p.Ala72Val) rs121918454
NM_002834.5(PTPN11):c.217A>C (p.Thr73Pro) rs397507513
NM_002834.5(PTPN11):c.217A>G (p.Thr73Ala)
NM_002834.5(PTPN11):c.235C>A (p.Gln79Lys) rs397516803
NM_002834.5(PTPN11):c.237G>C (p.Gln79His)
NM_002834.5(PTPN11):c.416A>G (p.Glu139Gly)
NM_002834.5(PTPN11):c.489C>T (p.Gly163=) rs2038105603
NM_002834.5(PTPN11):c.525+1G>A
NM_002834.5(PTPN11):c.782T>G (p.Leu261Arg) rs765642157
NM_002834.5(PTPN11):c.784C>T (p.Leu262Phe)
NM_002834.5(PTPN11):c.865A>G (p.Arg289Gly) rs2135901005

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.