List of variants in gene JAG1 reported by OMIM

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
JAG1, 1329, T-G, +2
NM_000214.3(JAG1):c.110T>C (p.Leu37Ser)	rs121918352
NM_000214.3(JAG1):c.1205dup (p.Gln403fs)	rs35615084
NM_000214.3(JAG1):c.1485_1486del (p.Cys496fs)	rs876660981
NM_000214.3(JAG1):c.1656del (p.Glu553fs)	rs1568795820
NM_000214.3(JAG1):c.1731C>G (p.Ser577Arg)	rs2122606362
NM_000214.3(JAG1):c.1948T>C (p.Ser650Pro)	rs2122604480
NM_000214.3(JAG1):c.2096_2100del (p.Gly699fs)	rs886039393
NM_000214.3(JAG1):c.2639_2640del (p.Asp879_Cys880insTer)	rs1568792286
NM_000214.3(JAG1):c.270dup (p.Pro91fs)	rs863223667
NM_000214.3(JAG1):c.2916+1G>C	rs1568791920
NM_000214.3(JAG1):c.3164_3167del (p.Val1055fs)	rs1555827653
NM_000214.3(JAG1):c.550C>T (p.Arg184Cys)	rs121918350
NM_000214.3(JAG1):c.551G>A (p.Arg184His)	rs121918351
NM_000214.3(JAG1):c.693_694del (p.Arg231fs)	rs876660978
NM_000214.3(JAG1):c.701G>A (p.Cys234Tyr)	rs121918353
NM_000214.3(JAG1):c.821G>A (p.Gly274Asp)	rs28939668

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