List of variants in gene GATA3 reported as pathogenic by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
GATA3, 250-KB DEL
GATA3, 900-KB DEL
NM_001002295.2(GATA3):c.1025G>A (p.Cys342Tyr)	rs387906621
NM_001002295.2(GATA3):c.1059A>T (p.Arg353Ser)	rs104894165
NM_001002295.2(GATA3):c.108_109del (p.Met36fs)	rs1588374920
NM_001002295.2(GATA3):c.1099C>T (p.Arg367Ter)	rs104894164
NM_001002295.2(GATA3):c.431del (p.Gly144fs)	rs1588377948
NM_001002295.2(GATA3):c.465_513del (p.Thr156fs)
NM_001002295.2(GATA3):c.478del (p.Asp160fs)	rs1588378126
NM_001002295.2(GATA3):c.823T>A (p.Trp275Arg)	rs104894163
NM_001002295.2(GATA3):c.829C>T (p.Arg277Ter)	rs104894162
NM_001002295.2(GATA3):c.864C>G (p.Cys288Trp)	rs746122348
NM_001002295.2(GATA3):c.901delinsAACCCT (p.Leu301fs)	rs2131501178
NM_001002295.2(GATA3):c.924+2delinsGCTTACTTCCC	rs387906551
NM_001002295.2(GATA3):c.947_958del (p.Thr316_Ala319del)	rs2131511647
NM_001002295.2(GATA3):c.951del (p.Cys318fs)	rs2131511714

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