List of variants in gene JUP reported as uncertain significance by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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: 29

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu)	rs151178348	0.00022
NM_002230.4(JUP):c.2069A>G (p.Asn690Ser)	rs147628503	0.00019
NM_002230.4(JUP):c.1582G>A (p.Val528Ile)	rs368271628	0.00018
NM_002230.4(JUP):c.545C>T (p.Ser182Leu)	rs145592971	0.00013
NM_002230.4(JUP):c.926A>G (p.Asn309Ser)	rs140606359	0.00010
NM_002230.4(JUP):c.356C>T (p.Pro119Leu)	rs376123010	0.00007
NM_002230.4(JUP):c.427G>A (p.Ala143Thr)	rs375788626	0.00007
NM_002230.4(JUP):c.56C>T (p.Thr19Ile)	rs570878629	0.00007
NM_002230.4(JUP):c.1909C>T (p.Arg637Cys)	rs531732438	0.00006
NM_002230.4(JUP):c.530G>A (p.Arg177Gln)	rs371481933	0.00006
NM_002230.4(JUP):c.998G>A (p.Arg333His)	rs727503099	0.00005
NM_002230.4(JUP):c.1035G>C (p.Lys345Asn)	rs150194093	0.00004
NM_002230.4(JUP):c.1331G>A (p.Arg444His)	rs369507567	0.00004
NM_002230.4(JUP):c.2105G>A (p.Arg702His)	rs200690479	0.00004
NM_002230.4(JUP):c.1379G>A (p.Arg460His)	rs397517296	0.00003
NM_002230.4(JUP):c.1933G>A (p.Ala645Thr)	rs727504778	0.00003
NM_002230.4(JUP):c.1753A>G (p.Thr585Ala)	rs782653485	0.00002
NM_002230.4(JUP):c.902A>G (p.Glu301Gly)	rs782058451	0.00002
NM_002230.4(JUP):c.1213G>A (p.Val405Ile)	rs200019016	0.00001
NM_002230.4(JUP):c.1696G>A (p.Ala566Thr)	rs727504695	0.00001
NM_002230.4(JUP):c.1744C>T (p.Arg582Trp)	rs782205755	0.00001
NM_002230.4(JUP):c.708-7C>T	rs397517301	0.00001
NM_002230.4(JUP):c.1153A>C (p.Lys385Gln)	rs727505135
NM_002230.4(JUP):c.1646C>A (p.Pro549His)	rs1555599683
NM_002230.4(JUP):c.1711G>T (p.Ala571Ser)	rs397517297
NM_002230.4(JUP):c.1715G>T (p.Arg572Leu)	rs397517298
NM_002230.4(JUP):c.1849G>A (p.Ala617Thr)	rs397517299
NM_002230.4(JUP):c.193G>T (p.Val65Leu)	rs727503100
NM_002230.4(JUP):c.389TCA[1] (p.Ile131del)	rs781818082

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.