List of variants in gene RUNX1 reported as pathogenic for not provided

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 19

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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
GRCh37/hg19 21q22.12(chr21:36164432-36421257)x1
GRCh37/hg19 21q22.12(chr21:36394632-36517454)x1
NM_001754.4(RUNX1):c.352-1G>T	rs587776809
NM_001754.5(RUNX1):c.1216del (p.Tyr406fs)	rs2056453972
NM_001754.5(RUNX1):c.240_241del (p.Glu80fs)	rs1569084388
NM_001754.5(RUNX1):c.270dup (p.Arg91fs)	rs2057999400
NM_001754.5(RUNX1):c.292del (p.Leu98fs)	rs1569084170
NM_001754.5(RUNX1):c.328A>G (p.Lys110Glu)	rs121912498
NM_001754.5(RUNX1):c.330G>C (p.Lys110Asn)	rs1569084082
NM_001754.5(RUNX1):c.351+1G>A	rs1060502579
NM_001754.5(RUNX1):c.489dup (p.Val164fs)
NM_001754.5(RUNX1):c.567C>G (p.Tyr189Ter)	rs1569061831
NM_001754.5(RUNX1):c.601C>T (p.Arg201Ter)	rs1057519748
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.957_958insG (p.Arg320fs)	rs2145907149
NM_001754.5(RUNX1):c.958C>T (p.Arg320Ter)	rs1569008655

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