ClinVar Miner

List of variants reported as benign for cleidocranial dysplasia 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_001024630.4(RUNX2):c.*599T>G rs45585135 0.10099
NM_001024630.4(RUNX2):c.*3592A>G rs62400377 0.08061
NM_001024630.4(RUNX2):c.240G>A (p.Ala80=) rs6921145 0.07604
NM_001024630.4(RUNX2):c.*1534T>C rs140371943 0.01371
NM_001024630.4(RUNX2):c.*1084C>A rs6906876 0.01297
NM_001024630.4(RUNX2):c.*1762G>C rs77663988 0.01200
NM_001024630.4(RUNX2):c.*278G>A rs142301498 0.00871
NM_001024630.4(RUNX2):c.1531G>A (p.Gly511Ser) rs11498198 0.00864
NM_001024630.4(RUNX2):c.*1448C>T rs77856760 0.00828
NM_001024630.4(RUNX2):c.*1859A>G rs115078186 0.00826
NM_001024630.4(RUNX2):c.*1919C>T rs6912472 0.00682
NM_001024630.4(RUNX2):c.*2199A>G rs144977950 0.00540
NM_001024630.4(RUNX2):c.663A>G (p.Val221=) rs115763613 0.00499
NM_001024630.4(RUNX2):c.*318C>T rs78935067 0.00417
NM_001024630.4(RUNX2):c.*3159C>T rs138689945 0.00223
NM_001024630.4(RUNX2):c.*801G>A rs143518330 0.00123
NM_001024630.4(RUNX2):c.*3030C>T rs145866183 0.00092
NM_001024630.4(RUNX2):c.*2657T>G rs537428636 0.00090
NM_001024630.4(RUNX2):c.859+10A>T rs200115506 0.00039
NM_001024630.4(RUNX2):c.*2612C>G rs539989584 0.00021
NM_001024630.4(RUNX2):c.*2274C>T rs186219428 0.00016
NM_001024630.4(RUNX2):c.*47C>T rs144321470 0.00015
NM_001024630.4(RUNX2):c.*1133A>T rs188598788 0.00014
NM_001024630.4(RUNX2):c.523A>G (p.Met175Val) rs201647225 0.00011
NM_001024630.4(RUNX2):c.581-9T>C rs374414428 0.00011
NM_003599.4(SUPT3H):c.101+36794A>G rs535015975 0.00005
NM_001024630.4(RUNX2):c.*2826G>A rs537731522 0.00004
NM_001024630.4(RUNX2):c.*3426C>T rs534970370 0.00003
NM_001024630.4(RUNX2):c.124G>T (p.Val42Leu) rs753332305 0.00002
NM_003599.4(SUPT3H):c.101+36538A>G rs750277342 0.00002
NM_001024630.4(RUNX2):c.*304G>A rs146801654 0.00001
NM_001024630.4(RUNX2):c.*3345G>A rs376702554 0.00001
NM_001024630.4(RUNX2):c.933G>A (p.Thr311=) rs146314825 0.00001
NM_001024630.4(RUNX2):c.*2001G>A rs150354057
NM_001024630.4(RUNX2):c.*2712del rs398001404
NM_001024630.4(RUNX2):c.*3160G>T rs1200428
NM_001024630.4(RUNX2):c.*608del rs398001403
NM_003599.4(SUPT3H):c.101+36554C>A rs768238770

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