ClinVar Miner

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

Included ClinVar conditions (98):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
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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.-4_21del (p.Met1fs)
NM_002049.4(GATA1):c.105dup (p.Ser36fs) rs1273620943
NM_002049.4(GATA1):c.122_165del (p.Leu41fs)
NM_002049.4(GATA1):c.125_146del (p.Asp42fs)
NM_002049.4(GATA1):c.154_173dup (p.Ala59fs) rs398124628
NM_002049.4(GATA1):c.155_174dup (p.Ala59fs)
NM_002049.4(GATA1):c.157_158insTG (p.Ala53fs) rs2147305695
NM_002049.4(GATA1):c.164_174dup (p.Ala59fs)
NM_002049.4(GATA1):c.166_187dup (p.Tyr63fs) rs1602219139
NM_002049.4(GATA1):c.169_170insTG (p.Ala57fs)
NM_002049.4(GATA1):c.173_174insCGCTGCGC (p.Leu60fs) rs2147305721
NM_002049.4(GATA1):c.182_183insGTGC (p.Tyr62fs)
NM_002049.4(GATA1):c.186C>G (p.Tyr62Ter)
NM_002049.4(GATA1):c.192_196del (p.Arg64fs) rs2147305736
NM_002049.4(GATA1):c.194_206del (p.Asp65fs)
NM_002049.4(GATA1):c.21del (p.Ser8fs) rs1557020001
NM_002049.4(GATA1):c.220+1G>T
NM_002049.4(GATA1):c.220+1del rs587776453
NM_002049.4(GATA1):c.220G>C (p.Val74Leu) rs587776452
NM_002049.4(GATA1):c.231_232dup (p.Tyr78fs) rs2147306077
NM_002049.4(GATA1):c.2T>C (p.Met1Thr) rs587776451
NM_002049.4(GATA1):c.35C>G (p.Ser12Ter) rs2062673416
NM_002049.4(GATA1):c.3G>T (p.Met1Ile) rs2147305526
NM_002049.4(GATA1):c.49C>T (p.Gln17Ter) rs2062673523
NM_002049.4(GATA1):c.5_8dup (p.Phe3fs) rs1602218917
NM_002049.4(GATA1):c.71_92dup (p.Phe33fs)
NM_002049.4(GATA1):c.89C>G (p.Ser30Ter) rs1557020021
NM_002049.4(GATA1):c.90_91del (p.Val32fs) rs2147305615
NM_002049.4(GATA1):c.94dup (p.Val32fs) rs1569499310
NM_002049.4(GATA1):c.98dup (p.Phe34fs) rs2062673787

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