ClinVar Miner

List of variants in gene RUNX1 reported as pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_001754.5(RUNX1):c.496C>T (p.Arg166Ter) rs759068561 0.00001
NM_001754.5(RUNX1):c.611G>A (p.Arg204Gln) rs1569061762 0.00001
NC_000021.8:g.(?_36164426)_(36171765_?)del
NC_000021.8:g.(?_36164426)_(36421202_?)del
NC_000021.8:g.(?_36182049)_(36231885_?)del
NC_000021.8:g.(?_36231761)_(36231885_?)del
NC_000021.8:g.(?_36231761)_(36253020_?)del
NC_000021.8:g.(?_36252834)_(36421595_?)del
NC_000021.8:g.(?_36421133)_(36421202_?)del
NC_000021.9:g.(?_34787801)_(34799462_?)del
NC_000021.9:g.(?_34792125)_(34892973_?)del
NC_000021.9:g.(?_34799291)_(35049298_?)del
NC_000021.9:g.(?_34880547)_(34880723_?)del
NC_000021.9:g.(?_35048836)_(35048905_?)del
NM_001754.4(RUNX1):c.352-1G>T rs587776809
NM_001754.5(RUNX1):c.1203del (p.Ser402fs)
NM_001754.5(RUNX1):c.132dup (p.Thr45fs)
NM_001754.5(RUNX1):c.140_150del (p.Leu47fs) rs2146413726
NM_001754.5(RUNX1):c.146del (p.Pro49fs)
NM_001754.5(RUNX1):c.149_158dup (p.Ser53fs) rs2146413580
NM_001754.5(RUNX1):c.166_193dup (p.Ala65fs) rs1569084530
NM_001754.5(RUNX1):c.215_216dup (p.Ser73fs) rs1555899813
NM_001754.5(RUNX1):c.228dup (p.Ser77fs)
NM_001754.5(RUNX1):c.247dup (p.Ala83fs) rs2146410761
NM_001754.5(RUNX1):c.253_254insGGGG (p.His85fs) rs2146410489
NM_001754.5(RUNX1):c.285del (p.Asn96fs)
NM_001754.5(RUNX1):c.289_299delinsCTCCTTCCGCTG (p.Phe97fs) rs1601528701
NM_001754.5(RUNX1):c.292_334dup (p.Leu112fs)
NM_001754.5(RUNX1):c.292del (p.Leu98fs) rs1569084170
NM_001754.5(RUNX1):c.318G>A (p.Trp106Ter)
NM_001754.5(RUNX1):c.328A>G (p.Lys110Glu) rs121912498
NM_001754.5(RUNX1):c.330G>T (p.Lys110Asn) rs1569084082
NM_001754.5(RUNX1):c.334del (p.Leu112fs) rs2057997486
NM_001754.5(RUNX1):c.351+1G>A rs1060502579
NM_001754.5(RUNX1):c.351+1G>C rs1060502579
NM_001754.5(RUNX1):c.351+2T>A rs2057997150
NM_001754.5(RUNX1):c.351+2T>C
NM_001754.5(RUNX1):c.356dup (p.Ala120fs)
NM_001754.5(RUNX1):c.385_395del (p.Leu129fs)
NM_001754.5(RUNX1):c.391_392insATCG (p.Thr131fs)
NM_001754.5(RUNX1):c.411dup (p.Glu138Ter)
NM_001754.5(RUNX1):c.422C>A (p.Ser141Ter)
NM_001754.5(RUNX1):c.422_423insATACCTTCGGACAAGGGGAATCGGAATAAAAG (p.Ala142fs)
NM_001754.5(RUNX1):c.424del (p.Ala142fs)
NM_001754.5(RUNX1):c.458del (p.Asn153fs)
NM_001754.5(RUNX1):c.497G>A (p.Arg166Gln) rs1060499616
NM_001754.5(RUNX1):c.503del (p.Gly168fs) rs2146360319
NM_001754.5(RUNX1):c.505dup (p.Arg169fs)
NM_001754.5(RUNX1):c.508+3del rs587776810
NM_001754.5(RUNX1):c.528_531dup (p.Thr178fs) rs2146236515
NM_001754.5(RUNX1):c.528del (p.Ile177fs)
NM_001754.5(RUNX1):c.551_552insTACCACAGAGCCATCTGTG (p.Gln185fs)
NM_001754.5(RUNX1):c.585del (p.Thr196fs) rs2146235121
NM_001754.5(RUNX1):c.601C>T (p.Arg201Ter) rs1057519748
NM_001754.5(RUNX1):c.601dup (p.Arg201fs) rs2146234527
NM_001754.5(RUNX1):c.602G>A (p.Arg201Gln) rs74315450
NM_001754.5(RUNX1):c.610C>T (p.Arg204Ter) rs1569061768
NM_001754.5(RUNX1):c.637del (p.Gln213fs) rs2146076947
NM_001754.5(RUNX1):c.656_674del (p.Leu219fs)
NM_001754.5(RUNX1):c.664dup (p.Ser222fs) rs2146076572
NM_001754.5(RUNX1):c.695_696del (p.Arg232fs)
NM_001754.5(RUNX1):c.696dup (p.Arg233fs)
NM_001754.5(RUNX1):c.713_726del (p.Val238fs) rs2146075609
NM_001754.5(RUNX1):c.723_729dup (p.Ala244fs)
NM_001754.5(RUNX1):c.777dup (p.Asn260Ter) rs2146074811
NM_001754.5(RUNX1):c.782dup (p.Gln262fs)
NM_001754.5(RUNX1):c.799_800dup (p.Met267fs)
NM_001754.5(RUNX1):c.814C>T (p.Gln272Ter)
NM_001754.5(RUNX1):c.820C>T (p.Gln274Ter)
NM_001754.5(RUNX1):c.847C>T (p.Gln283Ter) rs374341207
NM_001754.5(RUNX1):c.861C>A (p.Tyr287Ter) rs121912499
NM_001754.5(RUNX1):c.891_904del (p.Pro298fs)
NM_001754.5(RUNX1):c.911dup (p.Gly305fs)
NM_001754.5(RUNX1):c.952dup (p.Ser318fs)
NM_001754.5(RUNX1):c.958C>T (p.Arg320Ter) rs1569008655
NM_001754.5(RUNX1):c.967+2_967+5del rs2056574456

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