ClinVar Miner

List of variants in gene RUNX2 reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 212
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001024630.4(RUNX2):c.*3111T>C rs561547493 0.00213
NM_001024630.4(RUNX2):c.1166A>G (p.Asn389Ser) rs115347084 0.00151
NM_001024630.4(RUNX2):c.*2845A>C rs558458433 0.00073
NM_001024630.4(RUNX2):c.*155A>G rs1016786049 0.00070
NM_001024630.4(RUNX2):c.*701C>G rs886061496 0.00064
NM_001024630.4(RUNX2):c.*2619A>G rs554964716 0.00059
NM_001024630.4(RUNX2):c.*2382G>A rs561705802 0.00045
NM_001024630.4(RUNX2):c.*1278T>C rs756225322 0.00028
NM_001024630.4(RUNX2):c.*3047A>C rs182124295 0.00026
NM_001024630.4(RUNX2):c.531C>G (p.Asn177Lys) rs147359883 0.00024
NM_001024630.4(RUNX2):c.932C>T (p.Thr311Met) rs749565421 0.00023
NM_001024630.4(RUNX2):c.*3218A>G rs554368801 0.00018
NM_001024630.4(RUNX2):c.607G>A (p.Val203Ile) rs147009083 0.00016
NM_001024630.4(RUNX2):c.*2880C>A rs567622268 0.00011
NM_001024630.4(RUNX2):c.296A>T (p.Asn99Ile) rs150962268 0.00011
NM_001024630.4(RUNX2):c.*881A>G rs886061498 0.00010
NM_001024630.4(RUNX2):c.*1696C>T rs755642283 0.00009
NM_001024630.4(RUNX2):c.887C>T (p.Pro296Leu) rs201584115 0.00009
NM_001024630.4(RUNX2):c.*1549T>A rs757660837 0.00008
NM_001024630.4(RUNX2):c.*1174A>C rs765793000 0.00007
NM_001024630.4(RUNX2):c.*3642C>T rs886061510 0.00007
NM_001024630.4(RUNX2):c.1342G>T (p.Gly448Cys) rs1384517929 0.00006
NM_001024630.4(RUNX2):c.523A>G (p.Met175Val) rs201647225 0.00006
NM_001024630.4(RUNX2):c.*1673G>A rs944231481 0.00005
NM_001024630.4(RUNX2):c.*608T>C rs886061495 0.00005
NM_001024630.4(RUNX2):c.799C>T (p.Arg267Trp) rs370486033 0.00005
NM_001024630.4(RUNX2):c.*3329T>C rs886061509 0.00004
NM_001024630.4(RUNX2):c.*69G>T rs562720936 0.00004
NM_001024630.4(RUNX2):c.1379C>T (p.Pro460Leu) rs768473049 0.00004
NM_001024630.4(RUNX2):c.1412C>T (p.Pro471Leu) rs142108189 0.00004
NM_001024630.4(RUNX2):c.304A>G (p.Met102Val) rs376849024 0.00004
NM_001024630.4(RUNX2):c.*1708T>C rs537488922 0.00003
NM_001024630.4(RUNX2):c.*1816C>G rs1392275901 0.00003
NM_001024630.4(RUNX2):c.*2381C>T rs1017898446 0.00003
NM_001024630.4(RUNX2):c.*2520T>C rs1045136729 0.00003
NM_001024630.4(RUNX2):c.*262A>G rs933682511 0.00003
NM_001024630.4(RUNX2):c.*3052C>A rs1008736802 0.00003
NM_001024630.4(RUNX2):c.100C>G (p.Leu34Val) rs534661233 0.00003
NM_001024630.4(RUNX2):c.1307C>T (p.Pro436Leu) rs751887748 0.00003
NM_001024630.4(RUNX2):c.1442C>T (p.Thr481Met) rs780973109 0.00003
NM_001024630.4(RUNX2):c.524T>C (p.Met175Thr) rs104893989 0.00003
NM_001024630.4(RUNX2):c.959C>T (p.Pro320Leu) rs746114073 0.00003
NM_001024630.4(RUNX2):c.992C>G (p.Ala331Gly) rs114554762 0.00003
NM_001024630.4(RUNX2):c.*1948G>A rs961467252 0.00002
NM_001024630.4(RUNX2):c.*56A>G rs1014171607 0.00002
NM_001024630.4(RUNX2):c.104A>T (p.Gln35Leu) rs1048885121 0.00002
NM_001024630.4(RUNX2):c.1172G>A (p.Arg391Gln) rs780524636 0.00002
NM_001024630.4(RUNX2):c.124G>T (p.Val42Leu) rs753332305 0.00002
NM_001024630.4(RUNX2):c.775G>A (p.Val259Ile) rs1466738996 0.00002
NM_001024630.4(RUNX2):c.898G>C (p.Asp300His) rs370331024 0.00002
NM_001024630.4(RUNX2):c.*1376C>T rs1253474691 0.00001
NM_001024630.4(RUNX2):c.*1684G>C rs745340776 0.00001
NM_001024630.4(RUNX2):c.*2236T>G rs531493813 0.00001
NM_001024630.4(RUNX2):c.*2318A>T rs886061502 0.00001
NM_001024630.4(RUNX2):c.*2622G>C rs886061504 0.00001
NM_001024630.4(RUNX2):c.*2786A>G rs886061507 0.00001
NM_001024630.4(RUNX2):c.*2890A>G rs886061508 0.00001
NM_001024630.4(RUNX2):c.*3693A>G rs146924197 0.00001
NM_001024630.4(RUNX2):c.1007C>T (p.Pro336Leu) rs1366398692 0.00001
NM_001024630.4(RUNX2):c.1087+5G>A rs1563132952 0.00001
NM_001024630.4(RUNX2):c.1117C>T (p.Pro373Ser) rs1563133543 0.00001
NM_001024630.4(RUNX2):c.1156C>T (p.Arg386Cys) rs753780685 0.00001
NM_001024630.4(RUNX2):c.1222A>G (p.Met408Val) rs1032694844 0.00001
NM_001024630.4(RUNX2):c.1240G>A (p.Ala414Thr) rs763860044 0.00001
NM_001024630.4(RUNX2):c.1428C>T (p.Thr476=) rs1466405295 0.00001
NM_001024630.4(RUNX2):c.1453C>A (p.Pro485Thr) rs1421970328 0.00001
NM_001024630.4(RUNX2):c.1453C>T (p.Pro485Ser) rs1421970328 0.00001
NM_001024630.4(RUNX2):c.275G>A (p.Arg92Gln) rs772777645 0.00001
NM_001024630.4(RUNX2):c.340G>A (p.Val114Ile) rs1798260254 0.00001
NM_001024630.4(RUNX2):c.423+3A>G rs1231715575 0.00001
NM_001024630.4(RUNX2):c.481G>A (p.Asp161Asn) rs1477047335 0.00001
NM_001024630.4(RUNX2):c.613A>G (p.Thr205Ala) rs762910660 0.00001
NM_001024630.4(RUNX2):c.734G>A (p.Arg245His) rs1310889814 0.00001
NM_001024630.4(RUNX2):c.806C>A (p.Ser269Tyr) rs1800495554 0.00001
NM_001024630.4(RUNX2):c.827C>G (p.Pro276Arg) rs1203966568 0.00001
NM_001024630.4(RUNX2):c.860A>G (p.Asp287Gly) rs1033729267 0.00001
NM_001024630.4(RUNX2):c.863C>T (p.Pro288Leu) rs148326029 0.00001
NM_001024630.4(RUNX2):c.884C>T (p.Pro295Leu) rs763466386 0.00001
NM_001024630.4(RUNX2):c.88C>G (p.Pro30Ala) rs990671181 0.00001
NM_001024630.4(RUNX2):c.896A>G (p.Tyr299Cys) rs1801179599 0.00001
NM_001024630.4(RUNX2):c.97A>T (p.Ser33Cys) rs1384459632 0.00001
GRCh37/hg19 6p21.1(chr6:45352106-45382450)x1
NC_000006.11:g.(?_45459658)_(45459871_?)del
NM_001024630.4(RUNX2):c.*1415G>T rs146749281
NM_001024630.4(RUNX2):c.*1455C>T rs886061501
NM_001024630.4(RUNX2):c.*1648T>C rs1802483250
NM_001024630.4(RUNX2):c.*1876A>T rs1802492982
NM_001024630.4(RUNX2):c.*1917G>T rs1298048535
NM_001024630.4(RUNX2):c.*2263C>T rs2481029286
NM_001024630.4(RUNX2):c.*2435T>C rs886061503
NM_001024630.4(RUNX2):c.*2689CTTT[2] rs886061505
NM_001024630.4(RUNX2):c.*2697del rs886061506
NM_001024630.4(RUNX2):c.*3543T>A rs1802544168
NM_001024630.4(RUNX2):c.*3605C>T rs562888619
NM_001024630.4(RUNX2):c.*549C>T rs1802451111
NM_001024630.4(RUNX2):c.*591del rs886061494
NM_001024630.4(RUNX2):c.*794T>C rs886061497
NM_001024630.4(RUNX2):c.*967T>C rs886061499
NM_001024630.4(RUNX2):c.1000G>A (p.Asp334Asn) rs373752642
NM_001024630.4(RUNX2):c.1021+3A>T rs2548650499
NM_001024630.4(RUNX2):c.1022-3C>A rs1275535914
NM_001024630.4(RUNX2):c.1060T>C (p.Ser354Pro)
NM_001024630.4(RUNX2):c.109G>C (p.Gly37Arg)
NM_001024630.4(RUNX2):c.109G>T (p.Gly37Cys) rs760049118
NM_001024630.4(RUNX2):c.1100T>C (p.Leu367Pro)
NM_001024630.4(RUNX2):c.1128C>G (p.Phe376Leu) rs2481024373
NM_001024630.4(RUNX2):c.1129C>A (p.Pro377Thr)
NM_001024630.4(RUNX2):c.1139C>T (p.Ser380Leu)
NM_001024630.4(RUNX2):c.1159T>C (p.Phe387Leu)
NM_001024630.4(RUNX2):c.1187C>T (p.Ala396Val) rs1022790945
NM_001024630.4(RUNX2):c.1192T>C (p.Phe398Leu)
NM_001024630.4(RUNX2):c.1204C>T (p.Pro402Ser) rs1802417971
NM_001024630.4(RUNX2):c.1205C>T (p.Pro402Leu) rs770452837
NM_001024630.4(RUNX2):c.1235T>C (p.Met412Thr)
NM_001024630.4(RUNX2):c.1241C>T (p.Ala414Val) rs2481024749
NM_001024630.4(RUNX2):c.124G>C (p.Val42Leu)
NM_001024630.4(RUNX2):c.1271C>A (p.Pro424Gln) rs1802420914
NM_001024630.4(RUNX2):c.1315A>G (p.Thr439Ala)
NM_001024630.4(RUNX2):c.1322G>T (p.Ser441Ile)
NM_001024630.4(RUNX2):c.1342G>A (p.Gly448Ser) rs1384517929
NM_001024630.4(RUNX2):c.1361A>T (p.Tyr454Phe)
NM_001024630.4(RUNX2):c.1369C>T (p.Pro457Ser)
NM_001024630.4(RUNX2):c.1378C>G (p.Pro460Ala) rs2150454132
NM_001024630.4(RUNX2):c.1387G>T (p.Asp463Tyr) rs1378225599
NM_001024630.4(RUNX2):c.1427C>T (p.Thr476Ile)
NM_001024630.4(RUNX2):c.1436G>T (p.Gly479Val)
NM_001024630.4(RUNX2):c.143C>A (p.Ala48Glu)
NM_001024630.4(RUNX2):c.1463del (p.Pro488fs)
NM_001024630.4(RUNX2):c.1478G>A (p.Gly493Asp) rs2481025507
NM_001024630.4(RUNX2):c.1478G>C (p.Gly493Ala) rs2481025507
NM_001024630.4(RUNX2):c.1497C>G (p.Ser499Arg)
NM_001024630.4(RUNX2):c.1513A>G (p.Thr505Ala) rs753025447
NM_001024630.4(RUNX2):c.1546T>A (p.Ser516Thr) rs2481025644
NM_001024630.4(RUNX2):c.1555C>T (p.Arg519Ter) rs2481025657
NM_001024630.4(RUNX2):c.159_185dup (p.Gln63_Gln71dup) rs747537373
NM_001024630.4(RUNX2):c.291C>A (p.His97Gln) rs1183896411
NM_001024630.4(RUNX2):c.298C>A (p.Arg100Ser) rs754711247
NM_001024630.4(RUNX2):c.304A>T (p.Met102Leu) rs376849024
NM_001024630.4(RUNX2):c.355C>A (p.Pro119Thr)
NM_001024630.4(RUNX2):c.360C>A (p.Asn120Lys) rs1798261271
NM_001024630.4(RUNX2):c.368G>A (p.Cys123Tyr) rs1582095105
NM_001024630.4(RUNX2):c.371C>G (p.Ser124Trp) rs1582095109
NM_001024630.4(RUNX2):c.374TGC[1] (p.Leu126del) rs2548582214
NM_001024630.4(RUNX2):c.377T>A (p.Leu126Gln) rs2150362641
NM_001024630.4(RUNX2):c.380C>G (p.Pro127Arg) rs2150362645
NM_001024630.4(RUNX2):c.386A>G (p.His129Arg)
NM_001024630.4(RUNX2):c.388T>C (p.Trp130Arg) rs2150362649
NM_001024630.4(RUNX2):c.388T>G (p.Trp130Gly) rs2150362649
NM_001024630.4(RUNX2):c.391C>A (p.Arg131Ser) rs2548582230
NM_001024630.4(RUNX2):c.392G>C (p.Arg131Pro)
NM_001024630.4(RUNX2):c.392G>T (p.Arg131Leu)
NM_001024630.4(RUNX2):c.400A>G (p.Lys134Glu) rs2548582235
NM_001024630.4(RUNX2):c.423+16_423+17delinsCT
NM_001024630.4(RUNX2):c.433C>T (p.Leu145Phe)
NM_001024630.4(RUNX2):c.436G>A (p.Gly146Arg) rs1428979499
NM_001024630.4(RUNX2):c.439G>A (p.Glu147Lys)
NM_001024630.4(RUNX2):c.452G>A (p.Gly151Glu)
NM_001024630.4(RUNX2):c.470_472delinsATC (p.Met157_Ala158delinsAsnPro) rs2548589113
NM_001024630.4(RUNX2):c.502C>T (p.Leu168Phe) rs2548589178
NM_001024630.4(RUNX2):c.506G>A (p.Arg169Gln) rs104893995
NM_001024630.4(RUNX2):c.509A>C (p.Asn170Thr)
NM_001024630.4(RUNX2):c.526A>C (p.Lys176Gln)
NM_001024630.4(RUNX2):c.527A>T (p.Lys176Ile)
NM_001024630.4(RUNX2):c.571A>C (p.Ser191Arg) rs2548589285
NM_001024630.4(RUNX2):c.578G>T (p.Arg193Leu) rs2150368254
NM_001024630.4(RUNX2):c.580+5G>A
NM_001024630.4(RUNX2):c.584A>T (p.Lys195Met) rs2548593496
NM_001024630.4(RUNX2):c.586A>G (p.Ser196Gly) rs2150371829
NM_001024630.4(RUNX2):c.59A>C (p.Asp20Ala)
NM_001024630.4(RUNX2):c.602T>C (p.Ile201Thr) rs2548593511
NM_001024630.4(RUNX2):c.61C>A (p.Pro21Thr)
NM_001024630.4(RUNX2):c.622C>T (p.Pro208Ser)
NM_001024630.4(RUNX2):c.62C>T (p.Pro21Leu) rs780033324
NM_001024630.4(RUNX2):c.631G>C (p.Ala211Pro) rs1305465503
NM_001024630.4(RUNX2):c.638A>G (p.Tyr213Cys)
NM_001024630.4(RUNX2):c.642C>G (p.His214Gln)
NM_001024630.4(RUNX2):c.647C>A (p.Ala216Glu) rs1798735983
NM_001024630.4(RUNX2):c.655G>C (p.Val219Leu)
NM_001024630.4(RUNX2):c.664G>A (p.Asp222Asn) rs1798736907
NM_001024630.4(RUNX2):c.665A>T (p.Asp222Val) rs2150371921
NM_001024630.4(RUNX2):c.672_673delinsAG (p.Arg225Gly) rs2548593585
NM_001024630.4(RUNX2):c.680C>G (p.Pro227Arg) rs2548593601
NM_001024630.4(RUNX2):c.682A>G (p.Arg228Gly) rs2548593604
NM_001024630.4(RUNX2):c.685+26444A>G
NM_001024630.4(RUNX2):c.685+3A>G
NM_001024630.4(RUNX2):c.685+5G>A rs1798738030
NM_001024630.4(RUNX2):c.685+5G>C rs1798738030
NM_001024630.4(RUNX2):c.686-7T>G rs2548635627
NM_001024630.4(RUNX2):c.74G>A (p.Arg25Gln) rs1384263802
NM_001024630.4(RUNX2):c.752G>A (p.Arg251His) rs376891808
NM_001024630.4(RUNX2):c.766A>C (p.Ser256Arg) rs1800492558
NM_001024630.4(RUNX2):c.767G>T (p.Ser256Ile) rs776708490
NM_001024630.4(RUNX2):c.77G>C (p.Arg26Pro) rs1180264044
NM_001024630.4(RUNX2):c.788C>T (p.Pro263Leu) rs563772449
NM_001024630.4(RUNX2):c.800G>A (p.Arg267Gln)
NM_001024630.4(RUNX2):c.817G>C (p.Ala273Pro) rs1443448373
NM_001024630.4(RUNX2):c.859+3A>G rs1800497589
NM_001024630.4(RUNX2):c.859+4A>G rs2548635920
NM_001024630.4(RUNX2):c.859+5G>A
NM_001024630.4(RUNX2):c.85C>A (p.Pro29Thr) rs114654066
NM_001024630.4(RUNX2):c.871G>T (p.Ala291Ser) rs1244922471
NM_001024630.4(RUNX2):c.886C>T (p.Pro296Ser) rs1554397657
NM_001024630.4(RUNX2):c.89C>A (p.Pro30His)
NM_001024630.4(RUNX2):c.904T>G (p.Ser302Ala)
NM_001024630.4(RUNX2):c.908A>T (p.Tyr303Phe) rs754963913
NM_001024630.4(RUNX2):c.910C>T (p.Pro304Ser)
NM_001024630.4(RUNX2):c.935C>T (p.Ser312Phe) rs2150421317
NM_001024630.4(RUNX2):c.938C>A (p.Pro313Gln) rs535706340
NM_001024630.4(RUNX2):c.938C>G (p.Pro313Arg)
NM_001024630.4(RUNX2):c.977G>T (p.Gly326Val)
NM_001024630.4(RUNX2):c.980C>G (p.Thr327Ser) rs2548650437
NM_001024630.4(RUNX2):c.991G>A (p.Ala331Thr) rs1582191853

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.