List of variants in gene RUNX1 studied for Thrombocytopenia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001754.5(RUNX1):c.611G>A (p.Arg204Gln)	rs1569061762	0.00001
NC_000021.8:g.36284364_37074805del
NC_000021.8:g.36318516_37184936del
NC_000021.9:g.34791392_34804065del
NM_001754.5(RUNX1):c.1164del (p.Ser389fs)	rs1601333051
NM_001754.5(RUNX1):c.165dup (p.Leu56fs)	rs2058004321
NM_001754.5(RUNX1):c.320G>A (p.Arg107His)	rs1569084106
NM_001754.5(RUNX1):c.351+1G>A	rs1060502579
NM_001754.5(RUNX1):c.508+1G>A	rs1601515718
NM_001754.5(RUNX1):c.578T>A (p.Ile193Asn)	rs1601470652
NM_001754.5(RUNX1):c.593A>T (p.Asp198Val)	rs1569061786
NM_001754.5(RUNX1):c.595G>A (p.Gly199Arg)	rs1601470582
NM_001754.5(RUNX1):c.610C>T (p.Arg204Ter)	rs1569061768
NM_001754.5(RUNX1):c.861C>G (p.Tyr287Ter)	rs121912499
NM_001754.5(RUNX1):c.958C>T (p.Arg320Ter)	rs1569008655
Single allele

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