List of variants in gene JAG1 reported as uncertain significance 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: 59

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HGVS	dbSNP	gnomAD frequency
NM_000214.3(JAG1):c.3281G>A (p.Arg1094Gln)	rs139629694	0.00015
NM_000214.3(JAG1):c.1115C>T (p.Ser372Phe)	rs772669312	0.00010
NM_000214.3(JAG1):c.1826C>T (p.Ser609Leu)	rs199505265	0.00009
NM_000214.3(JAG1):c.3346C>T (p.Arg1116Trp)	rs377723772	0.00009
NM_000214.3(JAG1):c.3302G>A (p.Ser1101Asn)	rs377617900	0.00008
NM_000214.3(JAG1):c.2828C>T (p.Pro943Leu)	rs767826365	0.00007
NM_000214.3(JAG1):c.3638G>A (p.Arg1213Gln)	rs138007561	0.00007
NM_000214.3(JAG1):c.3652G>A (p.Val1218Ile)	rs150295026	0.00007
NM_000214.3(JAG1):c.5G>T (p.Arg2Leu)	rs1026004197	0.00006
NM_000214.3(JAG1):c.2927C>T (p.Thr976Met)	rs751809412	0.00005
NM_000214.3(JAG1):c.3521C>T (p.Pro1174Leu)	rs775363555	0.00005
NM_000214.3(JAG1):c.3398C>T (p.Thr1133Met)	rs373260040	0.00004
NM_000214.3(JAG1):c.1438G>T (p.Ala480Ser)	rs144557870	0.00003
NM_000214.3(JAG1):c.2307C>T (p.Val769=)	rs1009422076	0.00003
NM_000214.3(JAG1):c.3289C>T (p.Arg1097Trp)	rs768554175	0.00003
NM_000214.3(JAG1):c.1835A>G (p.Lys612Arg)	rs750855317	0.00002
NM_000214.3(JAG1):c.2393T>A (p.Val798Glu)	rs1308346607	0.00002
NM_000214.3(JAG1):c.2803G>A (p.Glu935Lys)	rs753161584	0.00002
NM_000214.3(JAG1):c.2911T>C (p.Ser971Pro)	rs750570683	0.00002
NM_000214.3(JAG1):c.3001G>A (p.Ala1001Thr)	rs200593413	0.00002
NM_000214.3(JAG1):c.1415G>A (p.Arg472His)	rs574349599	0.00001
NM_000214.3(JAG1):c.1475C>T (p.Ala492Val)	rs200250528	0.00001
NM_000214.3(JAG1):c.1659G>T (p.Glu553Asp)	rs1337206941	0.00001
NM_000214.3(JAG1):c.3124C>T (p.Arg1042Cys)	rs778801776	0.00001
NM_000214.3(JAG1):c.3287G>A (p.Arg1096Gln)	rs2067258057	0.00001
NM_000214.3(JAG1):c.3347G>A (p.Arg1116Gln)	rs908755268	0.00001
NM_000214.3(JAG1):c.3410A>G (p.Lys1137Arg)	rs756835554	0.00001
NM_000214.3(JAG1):c.3456C>G (p.His1152Gln)	rs1392887430	0.00001
NM_000214.3(JAG1):c.3524C>T (p.Ala1175Val)	rs918046091	0.00001
NM_000214.3(JAG1):c.3542G>A (p.Arg1181Lys)	rs758788135	0.00001
NM_000214.3(JAG1):c.3566C>T (p.Thr1189Met)	rs997363236	0.00001
NM_000214.3(JAG1):c.3620G>A (p.Ser1207Asn)	rs1431420265	0.00001
NM_000214.3(JAG1):c.506C>T (p.Thr169Met)	rs745324562	0.00001
NM_000214.3(JAG1):c.67G>A (p.Ala23Thr)	rs2067513128	0.00001
NM_000214.3(JAG1):c.1079G>T (p.Cys360Phe)	rs2514520714
NM_000214.3(JAG1):c.1121-14_1121-10del	rs2122611723
NM_000214.3(JAG1):c.134_154del (p.Val45_Asn51del)	rs1345611817
NM_000214.3(JAG1):c.1370A>G (p.Gln457Arg)	rs1458033263
NM_000214.3(JAG1):c.1372T>C (p.Cys458Arg)	rs2514517850
NM_000214.3(JAG1):c.1466A>G (p.Asp489Gly)
NM_000214.3(JAG1):c.1801C>T (p.Pro601Ser)	rs2514515642
NM_000214.3(JAG1):c.2198G>C (p.Gly733Ala)	rs779874619
NM_000214.3(JAG1):c.221A>G (p.Tyr74Cys)
NM_000214.3(JAG1):c.2300C>G (p.Thr767Arg)	rs140330283
NM_000214.3(JAG1):c.2447A>T (p.Asp816Val)	rs2514511570
NM_000214.3(JAG1):c.2616T>G (p.Asp872Glu)
NM_000214.3(JAG1):c.2665C>T (p.Arg889Trp)	rs765431150
NM_000214.3(JAG1):c.2675G>A (p.Cys892Tyr)	rs2514509499
NM_000214.3(JAG1):c.3007G>A (p.Glu1003Lys)	rs781509375
NM_000214.3(JAG1):c.3048+5G>A	rs2514508252
NM_000214.3(JAG1):c.3062T>C (p.Ile1021Thr)	rs1736644803
NM_000214.3(JAG1):c.3338A>C (p.Asn1113Thr)	rs371118939
NM_000214.3(JAG1):c.3590C>A (p.Thr1197Lys)	rs770290396
NM_000214.3(JAG1):c.473C>T (p.Ser158Leu)	rs747203032
NM_000214.3(JAG1):c.601C>T (p.Arg201Cys)	rs794727618
NM_000214.3(JAG1):c.666A>C (p.Glu222Asp)
NM_000214.3(JAG1):c.851G>A (p.Cys284Tyr)	rs1555829067
NM_000214.3(JAG1):c.872A>G (p.Gln291Arg)
NM_000214.3(JAG1):c.925G>C (p.Gly309Arg)	rs750195672

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