ClinVar Miner

List of variants in gene GATA1 reported as pathogenic for beta-thalassemia-X-linked thrombocytopenia syndrome

Included ClinVar conditions (2):

Beta-thalassemia-X-linked thrombocytopenia syndrome
Complete trisomy 21 syndrome; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; Beta-thalassemia-X-linked thrombocytopenia syndrome; X-linked dyserythropoetic anemia with abnormal platelets and neutropenia

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_002049.4(GATA1):c.647G>A (p.Arg216Gln)	rs104894809	0.00001
NM_002049.4(GATA1):c.646C>T (p.Arg216Trp)	rs387907207

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