ClinVar Miner

List of variants in gene GATA1 reported as likely pathogenic by NIHR Bioresource Rare Diseases, University of Cambridge

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Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_002049.4(GATA1):c.1240T>C (p.Ter414Arg) rs587776456
NM_002049.4(GATA1):c.652G>A (p.Asp218Asn) rs104894808
NM_002049.4(GATA1):c.653A>G (p.Asp218Gly) rs104894816
NM_002049.4(GATA1):c.680C>T (p.Ala227Val) rs1602220307

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