ClinVar Miner

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

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)
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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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