List of variants in gene GATA1 studied for beta-thalassemia-X-linked thrombocytopenia syndrome

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_002049.4(GATA1):c.174G>A (p.Ala58=)	rs139614533	0.00040
NM_002049.4(GATA1):c.94G>A (p.Val32Ile)	rs782698349	0.00005
NM_002049.4(GATA1):c.419G>A (p.Arg140Gln)	rs997764249	0.00002
NM_002049.4(GATA1):c.283G>A (p.Gly95Ser)	rs782790256	0.00001
NM_002049.4(GATA1):c.599-9C>T	rs1369447266	0.00001
NM_002049.4(GATA1):c.647G>A (p.Arg216Gln)	rs104894809	0.00001
NM_002049.4(GATA1):c.944A>G (p.Lys315Arg)	rs782326935	0.00001
NM_002049.4(GATA1):c.1003A>C (p.Met335Leu)
NM_002049.4(GATA1):c.340G>A (p.Glu114Lys)	rs1317593957
NM_002049.4(GATA1):c.35C>G (p.Ser12Ter)	rs2062673416
NM_002049.4(GATA1):c.499G>C (p.Asp167His)
NM_002049.4(GATA1):c.528C>A (p.Thr176=)
NM_002049.4(GATA1):c.550_551delinsAA (p.Ala184Asn)	rs2519344884
NM_002049.4(GATA1):c.646C>T (p.Arg216Trp)	rs387907207
NM_002049.4(GATA1):c.748G>A (p.Val250Ile)
NM_002049.4(GATA1):c.893G>A (p.Arg298Gln)	rs2147307511

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