List of variants in gene GATA5 studied for congenital heart defects, multiple types

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_080473.5(GATA5):c.1128A>G (p.Pro376=)	rs6061550	0.53748
NM_080473.5(GATA5):c.232G>A (p.Gly78Ser)	rs572247741	0.00227
NM_080473.5(GATA5):c.477C>G (p.Phe159Leu)	rs112433432	0.00088
NM_080473.5(GATA5):c.424T>C (p.Tyr142His)	rs111554140	0.00061
NM_080473.5(GATA5):c.83C>T (p.Ala28Val)	rs112701160	0.00038
NM_080473.5(GATA5):c.1088A>G (p.Lys363Arg)	rs140317494	0.00026
NM_080473.5(GATA5):c.695G>A (p.Arg232His)	rs753656900	0.00001
NM_080473.5(GATA5):c.226G>T (p.Gly76Cys)
NM_080473.5(GATA5):c.405G>T (p.Gly135=)
NM_080473.5(GATA5):c.46T>G (p.Tyr16Asp)	rs1555897088
NM_080473.5(GATA5):c.569T>C (p.Val190Ala)	rs782051102
NM_080473.5(GATA5):c.595C>G (p.Leu199Val)	rs1555896779
NM_080473.5(GATA5):c.598T>G (p.Trp200Gly)	rs1555896778
NM_080473.5(GATA5):c.714C>T (p.Arg238=)
NM_080473.5(GATA5):c.755C>A (p.Thr252Lys)	rs143901995
NM_080473.5(GATA5):c.852G>A (p.Lys284=)	rs6587239
NM_080473.5(GATA5):c.981G>C (p.Ser327=)	rs6061243

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