List of variants in gene JAG1 studied for Deafness, congenital heart defects, and posterior embryotoxon

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: 6

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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	0.22213
NM_000214.3(JAG1):c.2916+27del	rs3215563
NM_000214.3(JAG1):c.701G>A (p.Cys234Tyr)	rs121918353

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