ClinVar Miner

List of variants in gene GATA1 reported as pathogenic for aplastic anemia

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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NM_002049.3(GATA1):c.166_187dup (p.Tyr63fs) rs1602219139
NM_002049.3(GATA1):c.21del (p.Ser8fs) rs1557020001
NM_002049.3(GATA1):c.5_8dup (p.Phe3fs) rs1602218917
NM_002049.3(GATA1):c.89C>G (p.Ser30Ter) rs1557020021
NM_002049.3(GATA1):c.94dup (p.Val32fs) rs1569499310
NM_002049.4(GATA1):c.98dup (p.Phe34fs)

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