List of variants in gene JAG1 reported as pathogenic by PreventionGenetics, part of Exact Sciences

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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_000214.3(JAG1):c.1156G>A (p.Gly386Arg)	rs863223650
NM_000214.3(JAG1):c.1375_1376dup (p.Gln459fs)
NM_000214.3(JAG1):c.1459_1460del (p.Asp487fs)	rs2514517243
NM_000214.3(JAG1):c.1713del (p.Cys572fs)	rs1555828546
NM_000214.3(JAG1):c.2122_2125del (p.Gln708fs)	rs727504412
NM_000214.3(JAG1):c.2230C>T (p.Arg744Ter)	rs863223655
NM_000214.3(JAG1):c.2583dup (p.Pro862fs)	rs2514509650
NM_000214.3(JAG1):c.2682+1G>A
NM_000214.3(JAG1):c.2690_2694dup (p.Pro899fs)	rs2514509349
NM_000214.3(JAG1):c.2728G>T (p.Glu910Ter)	rs368734792
NM_000214.3(JAG1):c.439+1G>A	rs863223648
NM_000214.3(JAG1):c.439C>T (p.Gln147Ter)	rs886043606
NM_000214.3(JAG1):c.550C>T (p.Arg184Cys)	rs121918350
NM_000214.3(JAG1):c.703C>T (p.Arg235Ter)	rs876660980
NM_000214.3(JAG1):c.73C>T (p.Arg25Ter)

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