ClinVar Miner

List of variants in gene MESP2 reported as uncertain significance for bone development disease

Included ClinVar conditions (619):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 59
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001039958.2(MESP2):c.573G>A (p.Gly191=) rs113097169 0.13255
NM_001039958.2(MESP2):c.585A>G (p.Gly195=) rs113636330 0.00779
NM_001039958.2(MESP2):c.*107T>C rs187988937 0.00187
NM_001039958.2(MESP2):c.*182C>T rs553766281 0.00096
NM_001039958.2(MESP2):c.793A>G (p.Thr265Ala) rs201002566 0.00061
NM_001039958.2(MESP2):c.185G>A (p.Arg62Gln) rs566641514 0.00041
NM_001039958.2(MESP2):c.787C>G (p.Gln263Glu) rs199662104 0.00039
NM_001039958.2(MESP2):c.*169G>A rs773406154 0.00036
NM_001039958.2(MESP2):c.1017C>T (p.Pro339=) rs370227491 0.00022
NM_001039958.2(MESP2):c.602G>A (p.Gly201Glu) rs377023417 0.00018
NM_001039958.2(MESP2):c.597A>G (p.Gly199=) rs778503063 0.00015
NM_001039958.2(MESP2):c.*318G>A rs989092590 0.00014
NM_001039958.2(MESP2):c.*101G>C rs761831896 0.00013
NM_001039958.2(MESP2):c.*118G>A rs1056747683 0.00009
NM_001039958.2(MESP2):c.168T>G (p.Pro56=) rs894593728 0.00009
NM_001039958.2(MESP2):c.218G>T (p.Arg73Leu) rs771745973 0.00006
NM_001039958.2(MESP2):c.561G>A (p.Gly187=) rs767474985 0.00006
NM_001039958.2(MESP2):c.1063G>A (p.Asp355Asn) rs770301033 0.00003
NM_001039958.2(MESP2):c.170C>G (p.Pro57Arg) rs1257896833 0.00002
NM_001039958.2(MESP2):c.*10G>A rs1407551013 0.00001
NM_001039958.2(MESP2):c.*229T>C rs543644563 0.00001
NM_001039958.2(MESP2):c.*50G>A rs755600035 0.00001
NM_001039958.2(MESP2):c.1073C>T (p.Pro358Leu) rs564292487 0.00001
NM_001039958.2(MESP2):c.1080C>T (p.Ala360=) rs762014488 0.00001
NM_001039958.2(MESP2):c.1144G>T (p.Glu382Ter) rs1317833419 0.00001
NM_001039958.2(MESP2):c.196G>A (p.Ala66Thr) rs1319032121 0.00001
NM_001039958.2(MESP2):c.682G>A (p.Gly228Arg) rs764972465 0.00001
NM_001039958.2(MESP2):c.921C>G (p.Tyr307Ter) rs766664800 0.00001
NM_001039958.2(MESP2):c.*132_*134dup rs3840032
NM_001039958.2(MESP2):c.*210C>G rs886051548
NM_001039958.2(MESP2):c.1017C>G (p.Pro339=) rs370227491
NM_001039958.2(MESP2):c.1017dup (p.Gly340fs) rs772586292
NM_001039958.2(MESP2):c.1073_1074insAGAGGACCAGAGGACC (p.Gly359fs) rs1481361626
NM_001039958.2(MESP2):c.1100_1101insT (p.Ser368fs) rs1555439287
NM_001039958.2(MESP2):c.1151G>A (p.Trp384Ter) rs1420321324
NM_001039958.2(MESP2):c.1155AGA[1] (p.Glu386del) rs543667424
NM_001039958.2(MESP2):c.157C>T (p.Gln53Ter)
NM_001039958.2(MESP2):c.189C>G (p.Ala63=) rs534821207
NM_001039958.2(MESP2):c.192_203dup (p.Glu65_Ala68dup) rs1468688261
NM_001039958.2(MESP2):c.220G>A (p.Ala74Thr)
NM_001039958.2(MESP2):c.461G>C (p.Gly154Ala) rs1968372166
NM_001039958.2(MESP2):c.517G>A (p.Ala173Thr) rs374604155
NM_001039958.2(MESP2):c.531_550del (p.Glu178fs) rs1567149313
NM_001039958.2(MESP2):c.546_557del (p.180_181QG[11]) rs397507446
NM_001039958.2(MESP2):c.547_556del (p.Gly183Argfs) rs1555439104
NM_001039958.2(MESP2):c.554G>C (p.Gly185Ala) rs764078106
NM_001039958.2(MESP2):c.556C>G (p.Gln186Glu) rs776642665
NM_001039958.2(MESP2):c.558_593del (p.180_181QG[7]) rs771492607
NM_001039958.2(MESP2):c.585_608del (p.180_181QG[9]) rs750330966
NM_001039958.2(MESP2):c.600_605del (p.180_181QG[12]) rs1555439121
NM_001039958.2(MESP2):c.637G>A (p.Ala213Thr) rs781296717
NM_001039958.2(MESP2):c.640_643del (p.Val214fs) rs1468383573
NM_001039958.2(MESP2):c.718del (p.Val240fs) rs756232049
NM_001039958.2(MESP2):c.791G>A (p.Gly264Glu) rs886051546
NM_001039958.2(MESP2):c.801_806del (p.Asp268_Ala269del) rs1555439163
NM_001039958.2(MESP2):c.918_919del (p.Tyr307fs) rs1428605825
NM_001039958.2(MESP2):c.948_949del (p.Cys317fs) rs757634059
NM_001039958.2(MESP2):c.957G>A (p.Ser319=) rs752665246
NM_001039958.2(MESP2):c.997A>T (p.Arg333Ter) rs1555439250

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.