ClinVar Miner

List of variants in gene GATA1 reported as pathogenic for anemia (disease)

Included ClinVar conditions (263):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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NM_002049.3(GATA1):c.1240T>C (p.Ter414Arg) rs587776456
NM_002049.3(GATA1):c.166_187dup (p.Tyr63fs)
NM_002049.3(GATA1):c.21del (p.Ser8fs) rs1557020001
NM_002049.3(GATA1):c.220+1del rs587776453
NM_002049.3(GATA1):c.220G>C (p.Val74Leu) rs587776452
NM_002049.3(GATA1):c.2T>C (p.Met1Thr) rs587776451
NM_002049.3(GATA1):c.5_8dup (p.Phe3fs)
NM_002049.3(GATA1):c.613G>A (p.Val205Met) rs104894815
NM_002049.3(GATA1):c.622G>C (p.Gly208Arg) rs587776454
NM_002049.3(GATA1):c.622_623delinsTC (p.Gly208Ser) rs137852312
NM_002049.3(GATA1):c.646C>T (p.Arg216Trp) rs387907207
NM_002049.3(GATA1):c.647G>A (p.Arg216Gln) rs104894809
NM_002049.3(GATA1):c.652G>T (p.Asp218Tyr) rs104894808
NM_002049.3(GATA1):c.653A>G (p.Asp218Gly) rs104894816
NM_002049.3(GATA1):c.89C>G (p.Ser30Ter) rs1557020021
NM_002049.3(GATA1):c.94dup (p.Val32fs) rs1569499310
NM_002049.3(GATA1):c.994G>T (p.Gly332Cys) rs587776455

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