List of variants in gene GATA6 reported as pathogenic for congenital anomaly of cardiovascular system

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_005257.6(GATA6):c.533C>T (p.Ala178Val)	rs387906815	0.00087
NM_005257.6(GATA6):c.592C>G (p.Leu198Val)	rs387906814	0.00068
NM_005257.6(GATA6):c.551G>A (p.Ser184Asn)	rs387906816	0.00014
NC_000018.10:g.(?_22168362)_(22172289_?)del
NM_005257.6(GATA6):c.1321G>T (p.Gly441Ter)	rs2143300665
NM_005257.6(GATA6):c.1396A>C (p.Asn466His)	rs387906813
NM_005257.6(GATA6):c.1418_1424del (p.Lys473fs)	rs2143300954
NM_005257.6(GATA6):c.1457_1458del (p.Glu486fs)	rs1598737972
NM_005257.6(GATA6):c.1477C>T (p.Arg493Ter)	rs1598737976
NM_005257.6(GATA6):c.151G>T (p.Glu51Ter)
NM_005257.6(GATA6):c.23G>A (p.Trp8Ter)	rs2033033528
NM_005257.6(GATA6):c.358C>T (p.Gln120Ter)
NM_005257.6(GATA6):c.616C>T (p.Gln206Ter)
NM_005257.6(GATA6):c.729_730del (p.Gly244fs)
NM_005257.6(GATA6):c.838G>T (p.Gly280Ter)	rs2033057699

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