ClinVar Miner

List of variants in gene RUNX1 reported as likely benign for Hereditary thrombocytopenia and hematologic cancer predisposition syndrome

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Gene type:
ClinVar version:
Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_001754.5(RUNX1):c.*3444A>G rs183666715 0.00225
NM_001754.5(RUNX1):c.*107G>A rs886057045 0.00017
NM_001754.5(RUNX1):c.*4188G>C rs761390141 0.00010
NM_001754.5(RUNX1):c.1252A>G (p.Met418Val) rs578042376 0.00010
NM_001754.5(RUNX1):c.613+18G>C rs374732985 0.00009
NM_001754.5(RUNX1):c.668A>G (p.Glu223Gly) rs780999703 0.00009
NM_001754.5(RUNX1):c.492C>T (p.Val164=) rs200907577 0.00008
NM_001754.5(RUNX1):c.36G>A (p.Ser12=) rs201490575 0.00004
NM_001754.5(RUNX1):c.54G>T (p.Met18Ile) rs371736038 0.00004
NM_001754.5(RUNX1):c.*3277G>T rs187846118 0.00003
NM_001754.5(RUNX1):c.*3527T>G rs548011352 0.00003
NM_001754.5(RUNX1):c.*68G>T rs886057046 0.00003
NM_001754.5(RUNX1):c.984A>G (p.Thr328=) rs377305704 0.00003
NM_001754.5(RUNX1):c.1119G>C (p.Ser373=) rs766678402 0.00002
NM_001754.5(RUNX1):c.1275G>A (p.Pro425=) rs886038488 0.00002
NM_001754.5(RUNX1):c.336G>T (p.Leu112=) rs977880516 0.00002
NM_001754.5(RUNX1):c.351+6G>T rs544853243 0.00002
NM_001754.5(RUNX1):c.666C>T (p.Ser222=) rs747906151 0.00002
NM_001754.5(RUNX1):c.843C>T (p.Tyr281=) rs377142186 0.00002
NM_001754.5(RUNX1):c.985G>A (p.Ala329Thr) rs1415582429 0.00002
NM_001754.5(RUNX1):c.1014G>A (p.Ala338=) rs2056460323 0.00001
NM_001754.5(RUNX1):c.1098C>T (p.Ile366=) rs767561590 0.00001
NM_001754.5(RUNX1):c.1236C>T (p.Gly412=) rs1298273572 0.00001
NM_001754.5(RUNX1):c.1287G>A (p.Leu429=) rs1213507506 0.00001
NM_001754.5(RUNX1):c.1356G>C (p.Val452=) rs1457702382 0.00001
NM_001754.5(RUNX1):c.1440C>T (p.Tyr480=) rs1555884783 0.00001
NM_001754.5(RUNX1):c.249C>G (p.Ala83=) rs751280667 0.00001
NM_001754.5(RUNX1):c.300C>G (p.Ser100=) rs764387069 0.00001
NM_001754.5(RUNX1):c.369T>A (p.Asp123Glu) rs768100078 0.00001
NM_001754.5(RUNX1):c.426T>C (p.Ala142=) rs779032088 0.00001
NM_001754.5(RUNX1):c.558C>T (p.Val186=) rs938065676 0.00001
NM_001754.5(RUNX1):c.613+7G>A rs1375122279 0.00001
NM_001754.5(RUNX1):c.729A>C (p.Pro243=) rs999807714 0.00001
NM_001754.5(RUNX1):c.738G>A (p.Thr246=) rs546998294 0.00001
NM_001754.5(RUNX1):c.834G>A (p.Pro278=) rs774311859 0.00001
NM_001754.5(RUNX1):c.882T>C (p.Pro294=) rs376963970 0.00001
NM_001754.5(RUNX1):c.900G>A (p.Thr300=) rs533383085 0.00001
NM_001754.5(RUNX1):c.924C>T (p.Ser308=) rs1060504666 0.00001
NM_001754.5(RUNX1):c.936C>T (p.Thr312=) rs368294941 0.00001
NM_001754.5(RUNX1):c.979C>T (p.Leu327=) rs1157267880 0.00001
NM_001754.5(RUNX1):c.981G>C (p.Leu327=) rs376269814 0.00001
NM_001754.5(RUNX1):c.*1360C>T rs190173314
NM_001754.5(RUNX1):c.*2201T>G rs902401401
NM_001754.5(RUNX1):c.-19G>A rs1568815605
NM_001754.5(RUNX1):c.1020C>G (p.Pro340=) rs1601333675
NM_001754.5(RUNX1):c.108G>A (p.Thr36=) rs2146414447
NM_001754.5(RUNX1):c.1092C>T (p.Ile364=) rs1321389332
NM_001754.5(RUNX1):c.1092CGGCAT[3] (p.364IG[3]) rs750495319
NM_001754.5(RUNX1):c.114C>T (p.Arg38=) rs2058005751
NM_001754.5(RUNX1):c.1176G>A (p.Gln392=) rs1432531187
NM_001754.5(RUNX1):c.1227C>G (p.Ala409=) rs2145875086
NM_001754.5(RUNX1):c.1260C>G (p.Gly420=) rs2145874515
NM_001754.5(RUNX1):c.1266G>A (p.Glu422=) rs967317406
NM_001754.5(RUNX1):c.1311C>G (p.Thr437=) rs1555884827
NM_001754.5(RUNX1):c.1317C>T (p.Ser439=) rs1060504667
NM_001754.5(RUNX1):c.1371C>A (p.Gly457=) rs2145872664
NM_001754.5(RUNX1):c.138G>T (p.Ala46=) rs747525766
NM_001754.5(RUNX1):c.1395C>T (p.Asn465=) rs1447497062
NM_001754.5(RUNX1):c.177C>T (p.Gly59=) rs1001736939
NM_001754.5(RUNX1):c.180C>T (p.Ala60=) rs375562861
NM_001754.5(RUNX1):c.219C>T (p.Ser73=) rs1157495777
NM_001754.5(RUNX1):c.249C>T (p.Ala83=) rs751280667
NM_001754.5(RUNX1):c.291C>T (p.Phe97=) rs1432236291
NM_001754.5(RUNX1):c.294C>G (p.Leu98=) rs1368531129
NM_001754.5(RUNX1):c.393T>C (p.Thr131=) rs746650216
NM_001754.5(RUNX1):c.402T>C (p.Ala134=) rs1555898635
NM_001754.5(RUNX1):c.508+9T>G rs549290119
NM_001754.5(RUNX1):c.510G>A (p.Gly170=) rs2057542703
NM_001754.5(RUNX1):c.546C>T (p.Asn182=) rs773071163
NM_001754.5(RUNX1):c.552G>A (p.Pro184=) rs752586117
NM_001754.5(RUNX1):c.588A>G (p.Thr196=) rs2057541225
NM_001754.5(RUNX1):c.59-12C>A rs202245096
NM_001754.5(RUNX1):c.597G>A (p.Gly199=) rs2146234640
NM_001754.5(RUNX1):c.600C>T (p.Pro200=) rs2146234551
NM_001754.5(RUNX1):c.651G>C (p.Gly217=) rs1569037346
NM_001754.5(RUNX1):c.699C>T (p.Arg233=) rs2146076038
NM_001754.5(RUNX1):c.702A>G (p.Thr234=) rs2146076013
NM_001754.5(RUNX1):c.741C>T (p.Pro247=) rs1060504668
NM_001754.5(RUNX1):c.806-14C>T rs2145910297
NM_001754.5(RUNX1):c.968-9G>A rs1374004810
NM_001754.5(RUNX1):c.987G>C (p.Ala329=) rs1332206830

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