ClinVar Miner

List of variants in gene MESP2 studied for bone disorder

Included ClinVar conditions (1346):
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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 98
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HGVS dbSNP gnomAD frequency
NM_001039958.2(MESP2):c.*431C>T rs11073889 0.62378
NM_001039958.2(MESP2):c.573G>A (p.Gly191=) rs113097169 0.13255
NM_001039958.2(MESP2):c.412G>A (p.Val138Met) rs28462216 0.06491
NM_001039958.2(MESP2):c.558G>A (p.Gln186=) rs28546919 0.05106
NM_001039958.2(MESP2):c.531G>A (p.Ala177=) rs75049807 0.04869
NM_001039958.2(MESP2):c.671C>T (p.Ser224Phe) rs71647807 0.02596
NM_001039958.2(MESP2):c.*326C>T rs76163582 0.01683
NM_001039958.2(MESP2):c.-11G>A rs139599055 0.00847
NM_001039958.2(MESP2):c.585A>G (p.Gly195=) rs113636330 0.00779
NM_001039958.2(MESP2):c.717G>C (p.Gly239=) rs181559095 0.00329
NM_001039958.2(MESP2):c.*107T>C rs187988937 0.00187
NM_001039958.2(MESP2):c.908T>C (p.Leu303Pro) rs185706635 0.00162
NM_001039958.2(MESP2):c.67G>A (p.Gly23Ser) rs548112443 0.00101
NM_001039958.2(MESP2):c.*182C>T rs553766281 0.00096
NM_001039958.2(MESP2):c.859C>T (p.Pro287Ser) rs201904631 0.00069
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.183C>T (p.Ser61=) rs753168674 0.00016
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.408G>T (p.Ser136=) rs760746152 0.00011
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.18T>A (p.Pro6=) rs529998749 0.00008
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.207G>T (p.Thr69=) rs571669966 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.669G>C (p.Pro223=) rs760409825 0.00001
NM_001039958.2(MESP2):c.682G>A (p.Gly228Arg) rs764972465 0.00001
NM_001039958.2(MESP2):c.885G>C (p.Thr295=) rs761196555 0.00001
NM_001039958.2(MESP2):c.921C>G (p.Tyr307Ter) rs766664800 0.00001
NM_001039958.1(MESP2):c.535GGGCAGGGGCAA[2_4] rs397507446
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.1122C>A (p.Gly374=) rs765218369
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.116C>A (p.Ser39Ter) rs1206731716
NM_001039958.2(MESP2):c.11C>A (p.Ser4Ter) rs1555439013
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.197C>G (p.Ala66Gly) rs71647809
NM_001039958.2(MESP2):c.220G>A (p.Ala74Thr)
NM_001039958.2(MESP2):c.229G>T (p.Gly77Ter) rs538996447
NM_001039958.2(MESP2):c.237G>C (p.Ala79=) rs775834437
NM_001039958.2(MESP2):c.237G>T (p.Ala79=) rs775834437
NM_001039958.2(MESP2):c.461G>C (p.Gly154Ala) rs1968372166
NM_001039958.2(MESP2):c.48G>A (p.Trp16Ter) rs912110093
NM_001039958.2(MESP2):c.498C>A (p.Pro166=) rs200336355
NM_001039958.2(MESP2):c.498C>G (p.Pro166=) rs200336355
NM_001039958.2(MESP2):c.49del (p.Ile17fs)
NM_001039958.2(MESP2):c.500_503dup (p.Gly169fs) rs113994158
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.534GGGGCAGGGGCAAGGGCAGGGGCA[1] (p.180QG[9]) rs200021459
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.549_584del (p.180_181QG[7]) rs749710849
NM_001039958.2(MESP2):c.552GGGGCA[1] (p.180QG[11]) rs56192595
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.586C>T (p.Gln196Ter) rs1555439118
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.670T>C (p.Ser224Pro) rs118204033
NM_001039958.2(MESP2):c.693C>T (p.Ala231=) rs901621478
NM_001039958.2(MESP2):c.700G>T (p.Glu234Ter) rs118204035
NM_001039958.2(MESP2):c.718del (p.Val240fs) rs756232049
NM_001039958.2(MESP2):c.737G>A (p.Trp246Ter) rs1555439152
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.83G>A (p.Trp28Ter)
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.966T>G (p.Ala322=) rs768285654
NM_001039958.2(MESP2):c.997A>T (p.Arg333Ter) rs1555439250

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