ClinVar Miner

List of variants studied for Noonan syndrome and Noonan-related syndrome by GenomeConnect - CFC International

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
Download table as spreadsheet
NM_001374258.1(BRAF):c.1526G>A (p.Gly509Glu) rs121913355
NM_001374258.1(BRAF):c.1905T>G (p.Phe635Leu) rs121913341
NM_001374258.1(BRAF):c.1907G>T (p.Gly636Val) rs397507483
NM_001374258.1(BRAF):c.1922A>C (p.Lys641Thr) rs397507484
NM_001374258.1(BRAF):c.2034T>G (p.Asp678Glu) rs180177042
NM_001374258.1(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_001374258.1(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_002755.3(MAP2K1):c.388T>A (p.Tyr130Asn)
NM_002755.4(MAP2K1):c.374A>G (p.Tyr125Cys)
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu) rs180177037
NM_004333.6(BRAF):c.1502A>C (p.Glu501Ala) rs180177039
NM_004333.6(BRAF):c.1802A>T (p.Lys601Ile) rs397507484
NM_033360.4(KRAS):c.355G>A (p.Asp119Asn) rs730880471

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.