List of variants reported as likely benign for Noonan syndrome 1 by Illumina Laboratory Services, Illumina

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

Total variants: 25

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000751.3(CHRND):c.*885T>C	rs1004175	0.34980
NM_000751.3(CHRND):c.*52A>G	rs2767	0.34088
NM_005199.5(CHRNG):c.507-13C>T	rs2853462	0.20012
NM_000751.3(CHRND):c.*424C>T	rs4973046	0.06579
NM_000751.3(CHRND):c.*1025A>G	rs115132742	0.02647
NM_005199.5(CHRNG):c.445G>A (p.Ala149Thr)	rs2289080	0.02629
NM_005199.5(CHRNG):c.*77T>C	rs11690038	0.02138
NM_002834.5(PTPN11):c.*801C>T	rs138246203	0.01271
NM_002834.5(PTPN11):c.525+12G>C	rs41304351	0.01035
NM_002834.5(PTPN11):c.*3043C>T	rs41307084	0.00647
NM_002834.5(PTPN11):c.*3006G>A	rs141870860	0.00646
NM_002834.5(PTPN11):c.*775G>A	rs181946923	0.00230
NM_002834.5(PTPN11):c.*2078G>A	rs144513512	0.00193
NM_002834.5(PTPN11):c.*838G>A	rs142648640	0.00035
NM_002834.5(PTPN11):c.*1805C>T	rs188162577	0.00033
NM_002834.5(PTPN11):c.558G>T (p.Arg186=)	rs200920312	0.00011
NM_002834.3(PTPN11):c.-287G>C	rs377496292	0.00009
NM_002834.5(PTPN11):c.*3381A>G	rs374962107	0.00003
NM_002834.5(PTPN11):c.*329T>C	rs576039073	0.00001
NM_002834.5(PTPN11):c.951G>A (p.Lys317=)	rs576405446	0.00001
NM_000751.3(CHRND):c.*547G>C	rs2343841
NM_002834.5(PTPN11):c.*1536T>C	rs371375321
NM_002834.5(PTPN11):c.*2629A>G	rs141655134
NM_005199.5(CHRNG):c.*477C>A	rs59295139
NM_005199.5(CHRNG):c.592_598del	rs199761478

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.