ClinVar Miner

List of variants in gene LOC130063193, MAP2K2 studied for RASopathy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_030662.4(MAP2K2):c.33G>A (p.Ala11=) rs368233443 0.00013
NM_030662.4(MAP2K2):c.39C>T (p.Thr13=) rs752951050 0.00002
NM_030662.4(MAP2K2):c.26T>C (p.Leu9Pro) rs758307267 0.00001
NM_030662.4(MAP2K2):c.92+11A>C rs1228838756 0.00001
NM_030662.4(MAP2K2):c.-27CCG[3] rs397517411
NM_030662.4(MAP2K2):c.17A>G (p.Lys6Arg)
NM_030662.4(MAP2K2):c.21G>A (p.Pro7=)
NM_030662.4(MAP2K2):c.22del (p.Val8fs) rs730880519
NM_030662.4(MAP2K2):c.30G>A (p.Pro10=) rs2145089952
NM_030662.4(MAP2K2):c.30G>C (p.Pro10=)
NM_030662.4(MAP2K2):c.34C>A (p.Leu12Ile) rs2041335933
NM_030662.4(MAP2K2):c.45C>T (p.Asn15=) rs767770776
NM_030662.4(MAP2K2):c.46C>A (p.Pro16Thr) rs904859028
NM_030662.4(MAP2K2):c.4C>T (p.Leu2=)
NM_030662.4(MAP2K2):c.55G>T (p.Ala19Ser)
NM_030662.4(MAP2K2):c.58G>A (p.Glu20Lys)
NM_030662.4(MAP2K2):c.61G>C (p.Gly21Arg)
NM_030662.4(MAP2K2):c.66A>G (p.Pro22=) rs1297461977
NM_030662.4(MAP2K2):c.71del (p.Pro24fs) rs730880525
NM_030662.4(MAP2K2):c.73A>G (p.Thr25Ala)
NM_030662.4(MAP2K2):c.79G>A (p.Glu27Lys)
NM_030662.4(MAP2K2):c.83G>A (p.Gly28Asp)
NM_030662.4(MAP2K2):c.83_84delinsAA (p.Gly28Glu) rs730880520
NM_030662.4(MAP2K2):c.92+12G>T rs2145089682
NM_030662.4(MAP2K2):c.92+15G>A
NM_030662.4(MAP2K2):c.92+18A>T

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.