List of variants in gene JAG1 studied for Tetralogy of Fallot

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_000214.3(JAG1):c.3417T>C (p.Tyr1139=)	rs1051419	0.71278
NM_000214.3(JAG1):c.440-15T>C	rs2273060	0.42936
NM_000214.3(JAG1):c.765C>T (p.Tyr255=)	rs1131695	0.42930
NM_000214.3(JAG1):c.3528C>T (p.Tyr1176=)	rs1051421	0.21993
NM_000214.3(JAG1):c.1613C>T (p.Ala538Val)	rs2067321488	0.00001
NM_000214.3(JAG1):c.2429C>T (p.Pro810Leu)	rs769531968	0.00001
NM_000214.3(JAG1):c.1036C>T (p.His346Tyr)	rs2067347304
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.289G>C (p.Gly97Arg)	rs2067506326
NM_000214.3(JAG1):c.2916+27del	rs3215563
NM_000214.3(JAG1):c.3001_3002dup (p.Cys1002fs)	rs2067268275
NM_000214.3(JAG1):c.3256G>A (p.Val1086Met)	rs1334024757
NM_000214.3(JAG1):c.744A>T (p.Pro248=)	rs10485741
NM_000214.3(JAG1):c.821G>A (p.Gly274Asp)	rs28939668

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