List of variants in gene RUNX1 reported as pathogenic by OMIM

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_001754.5(RUNX1):c.253C>A (p.His85Asn)	rs121912500	0.00001
NM_001754.4(RUNX1):c.352-1G>T	rs587776809
NM_001754.5(RUNX1):c.328A>G (p.Lys110Glu)	rs121912498
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.467C>A (p.Ala156Glu)	rs267607026
NM_001754.5(RUNX1):c.508+3del	rs587776810
NM_001754.5(RUNX1):c.602G>A (p.Arg201Gln)	rs74315450
NM_001754.5(RUNX1):c.861C>A (p.Tyr287Ter)	rs121912499

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