List of variants in gene JAG1 reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_000214.3(JAG1):c.236_251del (p.Leu79fs)	rs1600196426
NM_000214.3(JAG1):c.301G>C (p.Val101Leu)	rs1600196349
NM_000214.3(JAG1):c.601C>T (p.Arg201Cys)	rs794727618
NM_000214.3(JAG1):c.64T>C (p.Cys22Arg)	rs1555831004
NM_000214.3(JAG1):c.820G>A (p.Gly274Ser)	rs2122615095

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