ClinVar Miner

List of variants studied for cleidocranial dysplasia 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 159
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HGVS dbSNP gnomAD frequency
NM_001024630.4(RUNX2):c.*599T>G rs45585135 0.10099
NM_001024630.4(RUNX2):c.423+39G>C rs3749864 0.08101
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_003599.4(SUPT3H):c.101+36483_101+36485del rs139788537 0.00393
NM_001024630.4(RUNX2):c.*3159C>T rs138689945 0.00223
NM_001024630.4(RUNX2):c.*3111T>C rs561547493 0.00213
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.*2845A>C rs558458433 0.00073
NM_001024630.4(RUNX2):c.*155A>G rs1016786049 0.00072
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 0.00041
NM_001024630.4(RUNX2):c.859+10A>T rs200115506 0.00039
NM_001024630.4(RUNX2):c.*1278T>C rs756225322 0.00030
NM_001024630.4(RUNX2):c.*3047A>C rs182124295 0.00026
NM_001024630.4(RUNX2):c.*2612C>G rs539989584 0.00021
NM_001024630.4(RUNX2):c.*3218A>G rs554368801 0.00018
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.*2880C>A rs567622268 0.00011
NM_001024630.4(RUNX2):c.523A>G (p.Met175Val) rs201647225 0.00011
NM_001024630.4(RUNX2):c.581-9T>C rs374414428 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.*69G>T rs562720936 0.00006
NM_001024630.4(RUNX2):c.*1673G>A rs944231481 0.00005
NM_001024630.4(RUNX2):c.176A>G (p.Gln59Arg) rs779943223 0.00005
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.*3052C>A rs1008736802 0.00004
NM_001024630.4(RUNX2):c.*3329T>C rs886061509 0.00004
NM_001024630.4(RUNX2):c.1379C>T (p.Pro460Leu) rs768473049 0.00004
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.*3426C>T rs534970370 0.00003
NM_001024630.4(RUNX2):c.*56A>G rs1014171607 0.00002
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.*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.*304G>A rs146801654 0.00001
NM_001024630.4(RUNX2):c.*3345G>A rs376702554 0.00001
NM_001024630.4(RUNX2):c.*3693A>G rs146924197 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.933G>A (p.Thr311=) rs146314825 0.00001
NM_003599.4(SUPT3H):c.101+36514G>A rs886061492 0.00001
NM_001024630.4(RUNX2):c.*1415G>T rs146749281
NM_001024630.4(RUNX2):c.*1437dup rs147020695
NM_001024630.4(RUNX2):c.*1455C>T rs886061501
NM_001024630.4(RUNX2):c.*1648T>C rs1802483250
NM_001024630.4(RUNX2):c.*1708T>C rs537488922
NM_001024630.4(RUNX2):c.*1816C>G rs1392275901
NM_001024630.4(RUNX2):c.*1876A>T rs1802492982
NM_001024630.4(RUNX2):c.*1917G>T rs1298048535
NM_001024630.4(RUNX2):c.*1948G>A rs961467252
NM_001024630.4(RUNX2):c.*2001G>A rs150354057
NM_001024630.4(RUNX2):c.*2381C>T rs1017898446
NM_001024630.4(RUNX2):c.*2435T>C rs886061503
NM_001024630.4(RUNX2):c.*2479C>A rs540392893
NM_001024630.4(RUNX2):c.*2689CTTT[2] rs886061505
NM_001024630.4(RUNX2):c.*2697del rs886061506
NM_001024630.4(RUNX2):c.*2712del rs398001404
NM_001024630.4(RUNX2):c.*3160G>T rs1200428
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.*608T>C rs886061495
NM_001024630.4(RUNX2):c.*608del rs398001403
NM_001024630.4(RUNX2):c.*794T>C rs886061497
NM_001024630.4(RUNX2):c.*967T>C rs886061499
NM_001024630.4(RUNX2):c.1081C>T (p.Gln361Ter) rs2150452063
NM_001024630.4(RUNX2):c.1088G>T (p.Gly363Val) rs1802414251
NM_001024630.4(RUNX2):c.1127del (p.Phe376fs)
NM_001024630.4(RUNX2):c.1171C>T (p.Arg391Ter) rs397515537
NM_001024630.4(RUNX2):c.1191del (p.Phe398fs) rs1802417423
NM_001024630.4(RUNX2):c.1204C>T (p.Pro402Ser) rs1802417971
NM_001024630.4(RUNX2):c.1205dup (p.Pro403fs) rs730880314
NM_001024630.4(RUNX2):c.1228dup (p.Leu410fs) rs730880315
NM_001024630.4(RUNX2):c.1281del (p.Gly428fs) rs1802421481
NM_001024630.4(RUNX2):c.1379dup (p.Asp463fs) rs1582232661
NM_001024630.4(RUNX2):c.1565G>C (p.Ter522Ser) rs104893994
NM_001024630.4(RUNX2):c.159ACAGCAGCAGCAGCA[3] (p.Gln67_Gln71dup) rs781355841
NM_001024630.4(RUNX2):c.173_227del (p.Gln58fs)
NM_001024630.4(RUNX2):c.189_203delinsACAGCAGCAGCAGCAGCAGCAACAGCAGCCG (p.Glu72fs) rs730880313
NM_001024630.4(RUNX2):c.203delinsCG (p.Gln68fs) rs1798243790
NM_001024630.4(RUNX2):c.211C>T (p.Gln71Ter) rs774631263
NM_001024630.4(RUNX2):c.217del (p.Ala73fs) rs1554384228
NM_001024630.4(RUNX2):c.225GGCGGCTGCGGCGGCGGC[1] (p.Ala84_Ala89del) rs11498192
NM_001024630.4(RUNX2):c.233_234insAGGA (p.Ala79fs) rs1338909353
NM_001024630.4(RUNX2):c.234G>A (p.Ala78=) rs886061493
NM_001024630.4(RUNX2):c.298C>A (p.Arg100Ser) rs754711247
NM_001024630.4(RUNX2):c.29dup (p.Thr11fs) rs1786864520
NM_001024630.4(RUNX2):c.300_316del (p.Thr101fs)
NM_001024630.4(RUNX2):c.360C>A (p.Asn120Lys)
NM_001024630.4(RUNX2):c.368G>A (p.Cys123Tyr) rs1582095105
NM_001024630.4(RUNX2):c.371C>A (p.Ser124Ter) rs1582095109
NM_001024630.4(RUNX2):c.400A>G (p.Lys134Glu)
NM_001024630.4(RUNX2):c.407_411del (p.Leu136fs) rs2150362655
NM_001024630.4(RUNX2):c.423+2del rs1798262516
NM_001024630.4(RUNX2):c.424-1G>C
NM_001024630.4(RUNX2):c.443_454delinsG (p.Val148fs) rs1798551566
NM_001024630.4(RUNX2):c.476G>A (p.Gly159Asp) rs864621970
NM_001024630.4(RUNX2):c.505C>T (p.Arg169Trp) rs1203066173
NM_001024630.4(RUNX2):c.506G>A (p.Arg169Gln) rs104893995
NM_001024630.4(RUNX2):c.506G>C (p.Arg169Pro) rs104893995
NM_001024630.4(RUNX2):c.524T>G (p.Met175Arg) rs104893989
NM_001024630.4(RUNX2):c.539C>A (p.Ala180Glu) rs2150368229
NM_001024630.4(RUNX2):c.54T>C (p.Phe18=) rs1786871639
NM_001024630.4(RUNX2):c.568C>T (p.Arg190Trp) rs2150368246
NM_001024630.4(RUNX2):c.569G>A (p.Arg190Gln) rs1057521068
NM_001024630.4(RUNX2):c.571A>G (p.Ser191Gly)
NM_001024630.4(RUNX2):c.572G>A (p.Ser191Asn) rs104893990
NM_001024630.4(RUNX2):c.577C>T (p.Arg193Ter) rs1582105417
NM_001024630.4(RUNX2):c.581-1G>A rs2150371825
NM_001024630.4(RUNX2):c.594_595delinsG (p.Thr198_Leu199insTer) rs1798733144
NM_001024630.4(RUNX2):c.598A>G (p.Thr200Ala) rs104893993
NM_001024630.4(RUNX2):c.636dup (p.Tyr213fs) rs1798735440
NM_001024630.4(RUNX2):c.673C>T (p.Arg225Trp) rs104893992
NM_001024630.4(RUNX2):c.674G>A (p.Arg225Gln) rs104893991
NM_001024630.4(RUNX2):c.674G>T (p.Arg225Leu) rs104893991
NM_001024630.4(RUNX2):c.685+5G>A rs1798738030
NM_001024630.4(RUNX2):c.738C>T (p.Leu246=) rs1582169095
NM_001024630.4(RUNX2):c.739del (p.Ser247fs) rs2150407600
NM_001024630.4(RUNX2):c.884del (p.Pro295fs) rs2150421218
NM_001024630.4(RUNX2):c.891G>A (p.Trp297Ter) rs104893988
NM_001024630.4(RUNX2):c.901C>T (p.Gln301Ter) rs758120505
NM_001024630.4(RUNX2):c.90del (p.Ser31fs) rs397515538
NM_001024630.4(RUNX2):c.90dup (p.Ser31fs) rs397515538
NM_001024630.4(RUNX2):c.935C>T (p.Ser312Phe) rs2150421317
NM_001024630.4(RUNX2):c.938C>A (p.Pro313Gln) rs535706340
NM_003599.4(SUPT3H):c.101+36554C>A rs768238770
Single allele

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