List of variants in gene JAG1 reported as pathogenic for Tetralogy of Fallot

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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: 6

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HGVS	dbSNP	gnomAD frequency
NM_000214.3(JAG1):c.1395+3A>G	rs886044220
NM_000214.3(JAG1):c.1485_1486del (p.Cys496fs)	rs876660981
NM_000214.3(JAG1):c.2122_2125del (p.Gln708fs)	rs727504412
NM_000214.3(JAG1):c.228del (p.Val77fs)	rs2067506937
NM_000214.3(JAG1):c.3001_3002dup (p.Cys1002fs)	rs2067268275
NM_000214.3(JAG1):c.821G>A (p.Gly274Asp)	rs28939668

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