ClinVar Miner

List of variants in gene combination MAP2K1, SNAPC5 reported as uncertain significance for RASopathy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002755.4(MAP2K1):c.1168G>A (p.Ala390Thr) rs730880500 0.00009
NM_002755.4(MAP2K1):c.1062A>C (p.Gln354His) rs750035241 0.00002
NM_002755.4(MAP2K1):c.1135A>G (p.Ile379Val) rs373794940 0.00002
NM_002755.4(MAP2K1):c.1138G>A (p.Gly380Ser) rs750934083 0.00002
NM_002755.4(MAP2K1):c.1177G>A (p.Val393Ile) rs200442489 0.00002
NM_002755.4(MAP2K1):c.1066A>G (p.Met356Val) rs1009731985 0.00001
NM_002755.4(MAP2K1):c.1115C>T (p.Ala372Val) rs1893220987 0.00001
NM_002755.4(MAP2K1):c.1130C>T (p.Ser377Phe) rs371140798 0.00001
NM_002755.4(MAP2K1):c.1172C>T (p.Ala391Val) rs896594939 0.00001
NC_000015.9:g.(?_66679676)_(66782963_?)dup
NC_000015.9:g.(?_66774083)_(66782963_?)dup
NC_000015.9:g.(?_66780810)_(66782933_?)del
NM_002755.4(MAP2K1):c.1053T>A (p.Asp351Glu)
NM_002755.4(MAP2K1):c.1054T>G (p.Leu352Val)
NM_002755.4(MAP2K1):c.1067T>C (p.Met356Thr)
NM_002755.4(MAP2K1):c.1069-3C>T
NM_002755.4(MAP2K1):c.1072C>T (p.His358Tyr) rs1595889532
NM_002755.4(MAP2K1):c.1113T>G (p.Phe371Leu)
NM_002755.4(MAP2K1):c.1153A>G (p.Ser385Gly)
NM_002755.4(MAP2K1):c.1157C>T (p.Thr386Ile)
NM_002755.4(MAP2K1):c.1180dup (p.Ter394LeuextTer?) rs1893223775
NM_002755.4(MAP2K1):c.1181_*2del (p.Ter394CysextTer?) rs1595889609

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.