ClinVar Miner

List of variants reported as pathogenic by ClinGen Myeloid Malignancy Variant Curation Expert Panel

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ClinVar version:
Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_001754.5(RUNX1):c.352-1G>A rs587776809 0.00001
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.(?_36171588)_(36421595_?)del
NC_000021.8:g.(?_36252844)_(36253020_?)del
NC_000021.8:g.35304341_36865875del
NC_000021.9:g.(?_35048836)_(35048905_?)del
NM_001754.4(RUNX1):c.352-1G>T rs587776809
NM_001754.5(RUNX1):c.140_150del (p.Leu47fs) rs2146413726
NM_001754.5(RUNX1):c.1412_1413dup (p.Leu472fs) rs1555884790
NM_001754.5(RUNX1):c.149_158dup (p.Ser53fs) rs2146413580
NM_001754.5(RUNX1):c.165dup (p.Leu56fs) rs2058004321
NM_001754.5(RUNX1):c.166_193dup (p.Ala65fs) rs1569084530
NM_001754.5(RUNX1):c.166_196del (p.Leu56fs) rs2058002908
NM_001754.5(RUNX1):c.171_223del (p.Leu58fs) rs1569084451
NM_001754.5(RUNX1):c.215_216dup (p.Ser73fs) rs1555899813
NM_001754.5(RUNX1):c.240_241del (p.Glu80fs) rs1569084388
NM_001754.5(RUNX1):c.247dup (p.Ala83fs) rs2146410761
NM_001754.5(RUNX1):c.259_260dup (p.Glu88fs) rs2146410280
NM_001754.5(RUNX1):c.270dup (p.Arg91fs) rs2057999400
NM_001754.5(RUNX1):c.289_299delinsCTCCTTCCGCTG (p.Phe97fs) rs1601528701
NM_001754.5(RUNX1):c.292del (p.Leu98fs) rs1569084170
NM_001754.5(RUNX1):c.317G>A (p.Trp106Ter) rs2057998110
NM_001754.5(RUNX1):c.328A>G (p.Lys110Glu) rs121912498
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>T rs1060502579
NM_001754.5(RUNX1):c.400G>C (p.Ala134Pro) rs74315451
NM_001754.5(RUNX1):c.442_449del (p.Thr148fs) rs587776811
NM_001754.5(RUNX1):c.489dup (p.Val164fs)
NM_001754.5(RUNX1):c.497G>A (p.Arg166Gln) rs1060499616
NM_001754.5(RUNX1):c.501del (p.Ser167fs) rs1569078799
NM_001754.5(RUNX1):c.508+1G>A rs1601515718
NM_001754.5(RUNX1):c.508+3del rs587776810
NM_001754.5(RUNX1):c.528_531dup (p.Thr178fs) rs2146236515
NM_001754.5(RUNX1):c.566_584dup (p.Thr196fs) rs2146235138
NM_001754.5(RUNX1):c.567C>G (p.Tyr189Ter) rs1569061831
NM_001754.5(RUNX1):c.588del (p.Val197fs) rs2057541271
NM_001754.5(RUNX1):c.590_597del (p.Val197fs)
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.664dup (p.Ser222fs) rs2146076572
NM_001754.5(RUNX1):c.679G>T (p.Glu227Ter) rs1555889984
NM_001754.5(RUNX1):c.713_726del (p.Val238fs) rs2146075609
NM_001754.5(RUNX1):c.719del (p.Pro240fs) rs1569037127
NM_001754.5(RUNX1):c.735del (p.Thr246fs) rs2146075448
NM_001754.5(RUNX1):c.777dup (p.Asn260Ter) rs2146074811
NM_001754.5(RUNX1):c.784C>T (p.Gln262Ter) rs1601415426
NM_001754.5(RUNX1):c.802C>T (p.Gln268Ter) rs2146074437
NM_001754.5(RUNX1):c.814C>T (p.Gln272Ter)
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.861C>G (p.Tyr287Ter) rs121912499
NM_001754.5(RUNX1):c.958C>T (p.Arg320Ter) rs1569008655
NM_001754.5(RUNX1):c.967+2_967+5del rs2056574456
Single allele

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