List of variants in gene GATA1 reported by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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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.154_173dup (p.Ala59fs)	rs398124628
NM_002049.4(GATA1):c.184_187dup (p.Tyr63fs)	rs398124627
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
NM_002049.4(GATA1):c.613G>A (p.Val205Met)	rs104894815
NM_002049.4(GATA1):c.622_623delinsTC (p.Gly208Ser)	rs137852312
NM_002049.4(GATA1):c.646C>T (p.Arg216Trp)	rs387907207
NM_002049.4(GATA1):c.652G>T (p.Asp218Tyr)	rs104894808
NM_002049.4(GATA1):c.653A>G (p.Asp218Gly)	rs104894816
NM_002049.4(GATA1):c.919C>T (p.Arg307Cys)	rs1057518396
NM_002049.4(GATA1):c.920G>A (p.Arg307His)	rs1557020556

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