List of variants reported as pathogenic for X-linked dyserythropoetic anemia with abnormal platelets and neutropenia

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Total variants: 5

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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.220+1G>A	rs1569499366
NM_002049.4(GATA1):c.220+1del	rs587776453
NM_002049.4(GATA1):c.220G>C (p.Val74Leu)	rs587776452
NM_002049.4(GATA1):c.2T>C (p.Met1Thr)	rs587776451

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