ClinVar Miner

List of variants studied for Noonan syndrome 4 by 3billion

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005633.4(SOS1):c.1132A>G (p.Thr378Ala) rs397517146
NM_005633.4(SOS1):c.1289A>G (p.Asp430Gly) rs2124537699
NM_005633.4(SOS1):c.1387C>T (p.Leu463Phe)
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly) rs137852814
NM_005633.4(SOS1):c.1655G>C (p.Arg552Thr) rs397517154
NM_005633.4(SOS1):c.1656G>T (p.Arg552Ser) rs267607079
NM_005633.4(SOS1):c.1709C>T (p.Pro570Leu) rs2529034770
NM_005633.4(SOS1):c.2117G>A (p.Arg706Lys) rs2124517554
NM_005633.4(SOS1):c.2197A>T (p.Ile733Phe) rs574088829
NM_005633.4(SOS1):c.805A>G (p.Met269Val) rs1671005559
NM_005633.4(SOS1):c.806T>C (p.Met269Thr) rs137852813
NM_005633.4(SOS1):c.925G>A (p.Asp309Asn) rs397517180

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.