ClinVar Miner

List of variants in gene RUNX2 reported as pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 78
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HGVS dbSNP gnomAD frequency
NC_000006.11:g.(?_45389289)_(45480164_?)del
NC_000006.11:g.(?_45399580)_(45399776_?)del
NC_000006.11:g.(?_45399580)_(45405808_?)del
NC_000006.11:g.(?_45405664)_(45405808_?)del
NC_000006.11:g.(?_45405664)_(45480164_?)del
NC_000006.11:g.(?_45459658)_(45480164_?)del
NC_000006.11:g.(?_45512934)_(45515042_?)del
NC_000006.11:g.(?_45514554)_(45515042_?)del
NM_001024630.4(RUNX2):c.1071del (p.Ser357fs)
NM_001024630.4(RUNX2):c.1075_1076del (p.Lys359fs) rs2150452051
NM_001024630.4(RUNX2):c.1085C>T (p.Ala362Val) rs1802363925
NM_001024630.4(RUNX2):c.1144del (p.Leu382fs)
NM_001024630.4(RUNX2):c.1171C>T (p.Arg391Ter) rs397515537
NM_001024630.4(RUNX2):c.1200C>A (p.Tyr400Ter)
NM_001024630.4(RUNX2):c.1208dup (p.Val404fs) rs1802418386
NM_001024630.4(RUNX2):c.1214_1217dup (p.Gly407fs) rs2150453876
NM_001024630.4(RUNX2):c.1263C>A (p.Tyr421Ter)
NM_001024630.4(RUNX2):c.1275dup (p.Tyr426fs) rs1554125882
NM_001024630.4(RUNX2):c.1350del (p.Ser451fs)
NM_001024630.4(RUNX2):c.1384G>T (p.Gly462Ter) rs2150454165
NM_001024630.4(RUNX2):c.1385del (p.Gly462fs)
NM_001024630.4(RUNX2):c.1385dup (p.Asp463fs) rs1561822364
NM_001024630.4(RUNX2):c.138_175dup (p.Gln59fs) rs2150362152
NM_001024630.4(RUNX2):c.1550_1553del (p.Val517fs)
NM_001024630.4(RUNX2):c.1554del (p.Trp518fs)
NM_001024630.4(RUNX2):c.274del (p.Arg92fs) rs2150362526
NM_001024630.4(RUNX2):c.274dup (p.Arg92fs) rs2150362526
NM_001024630.4(RUNX2):c.278T>A (p.Leu93Ter) rs1798255831
NM_001024630.4(RUNX2):c.329del (p.Pro110fs) rs1798259380
NM_001024630.4(RUNX2):c.365T>C (p.Leu122Pro)
NM_001024630.4(RUNX2):c.388T>A (p.Trp130Arg)
NM_001024630.4(RUNX2):c.388T>C (p.Trp130Arg) rs2150362649
NM_001024630.4(RUNX2):c.389G>A (p.Trp130Ter)
NM_001024630.4(RUNX2):c.392G>A (p.Arg131His)
NM_001024630.4(RUNX2):c.407T>C (p.Leu136Pro) rs2150362661
NM_001024630.4(RUNX2):c.411del (p.Val138fs)
NM_001024630.4(RUNX2):c.422dup (p.Val142fs) rs2150362678
NM_001024630.4(RUNX2):c.423+1_423+5del rs2150362681
NM_001024630.4(RUNX2):c.423+2T>G rs2150362688
NM_001024630.4(RUNX2):c.436G>A (p.Gly146Arg)
NM_001024630.4(RUNX2):c.505C>T (p.Arg169Trp) rs1203066173
NM_001024630.4(RUNX2):c.516dup (p.Ala173fs) rs2150368206
NM_001024630.4(RUNX2):c.536_542del (p.Val179fs)
NM_001024630.4(RUNX2):c.554del (p.Leu185fs)
NM_001024630.4(RUNX2):c.556A>G (p.Arg186Gly)
NM_001024630.4(RUNX2):c.560T>C (p.Phe187Ser)
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.577C>T (p.Arg193Ter) rs1582105417
NM_001024630.4(RUNX2):c.578G>A (p.Arg193Gln) rs2150368254
NM_001024630.4(RUNX2):c.590T>C (p.Phe197Ser)
NM_001024630.4(RUNX2):c.598A>G (p.Thr200Ala) rs104893993
NM_001024630.4(RUNX2):c.604del (p.Thr202fs) rs1271018624
NM_001024630.4(RUNX2):c.617del (p.Asn206fs) rs2150371856
NM_001024630.4(RUNX2):c.625C>T (p.Gln209Ter)
NM_001024630.4(RUNX2):c.637_640dup (p.His214fs)
NM_001024630.4(RUNX2):c.645_646del (p.Arg215fs)
NM_001024630.4(RUNX2):c.652A>G (p.Lys218Glu) rs2150371897
NM_001024630.4(RUNX2):c.659C>T (p.Thr220Ile) rs2150371905
NM_001024630.4(RUNX2):c.668G>A (p.Gly223Glu)
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.681del (p.Arg228fs)
NM_001024630.4(RUNX2):c.734_737dup (p.Ser247fs)
NM_001024630.4(RUNX2):c.765del (p.Ser256fs)
NM_001024630.4(RUNX2):c.838C>T (p.Gln280Ter)
NM_001024630.4(RUNX2):c.850C>T (p.Gln284Ter)
NM_001024630.4(RUNX2):c.852del (p.Ile285fs)
NM_001024630.4(RUNX2):c.860-1G>T rs2150421181
NM_001024630.4(RUNX2):c.868C>T (p.Gln290Ter) rs1311296877
NM_001024630.4(RUNX2):c.874_875del (p.Gln292fs) rs2150421206
NM_001024630.4(RUNX2):c.909C>G (p.Tyr303Ter)
NM_001024630.4(RUNX2):c.90dup (p.Ser31fs) rs397515538
NM_001024630.4(RUNX2):c.912del (p.Ser305fs)
NM_001024630.4(RUNX2):c.917del (p.Tyr306fs)
NM_001024630.4(RUNX2):c.925C>T (p.Gln309Ter)
NM_001024630.4(RUNX2):c.938del (p.Pro313fs)
NM_001024630.4(RUNX2):c.947dup (p.His316fs)

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