ClinVar Miner

List of variants in gene RUNX2 reported as uncertain significance for bone disorder

Included ClinVar conditions (1436):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_001024630.4(RUNX2):c.*3111T>C rs561547493 0.00213
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.*3218A>G rs554368801 0.00018
NM_001024630.4(RUNX2):c.*2880C>A rs567622268 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.*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.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.*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.*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.*1948G>A rs961467252 0.00002
NM_001024630.4(RUNX2):c.*56A>G rs1014171607 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.340G>A (p.Val114Ile) rs1798260254 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.863C>T (p.Pro288Leu) rs148326029 0.00001
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.1204C>T (p.Pro402Ser) rs1802417971
NM_001024630.4(RUNX2):c.1369C>T (p.Pro457Ser)
NM_001024630.4(RUNX2):c.298C>A (p.Arg100Ser) rs754711247
NM_001024630.4(RUNX2):c.368G>A (p.Cys123Tyr) rs1582095105
NM_001024630.4(RUNX2):c.400A>G (p.Lys134Glu) rs2548582235
NM_001024630.4(RUNX2):c.452G>A (p.Gly151Glu)
NM_001024630.4(RUNX2):c.580+5G>A
NM_001024630.4(RUNX2):c.622C>T (p.Pro208Ser)
NM_001024630.4(RUNX2):c.638A>G (p.Tyr213Cys)
NM_001024630.4(RUNX2):c.685+5G>A rs1798738030
NM_001024630.4(RUNX2):c.935C>T (p.Ser312Phe) rs2150421317
NM_001024630.4(RUNX2):c.938C>A (p.Pro313Gln) rs535706340

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