List of variants in gene JUP reported as likely benign 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: 32

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HGVS	dbSNP	gnomAD frequency
NM_002230.4(JUP):c.1159-13C>A	rs201627219	0.00258
NM_002230.4(JUP):c.567C>T (p.Val189=)	rs35297577	0.00090
NM_002230.4(JUP):c.1054+7A>T	rs371988639	0.00049
NM_002230.4(JUP):c.297G>A (p.Ser99=)	rs200976464	0.00049
NM_002230.4(JUP):c.1366G>A (p.Val456Ile)	rs78437817	0.00036
NM_002230.4(JUP):c.633C>T (p.Asn211=)	rs372145644	0.00036
NM_002230.4(JUP):c.459C>T (p.Asp153=)	rs376289528	0.00029
NM_002230.4(JUP):c.486G>A (p.Ala162=)	rs113317262	0.00026
NM_002230.4(JUP):c.1910G>A (p.Arg637His)	rs142095597	0.00025
NM_002230.4(JUP):c.546G>A (p.Ser182=)	rs202038498	0.00023
NM_002230.4(JUP):c.1377G>T (p.Leu459=)	rs147370522	0.00018
NM_002230.4(JUP):c.2031G>A (p.Pro677=)	rs188888662	0.00018
NM_002230.4(JUP):c.2178C>T (p.Ile726=)	rs141295561	0.00016
NM_002230.4(JUP):c.2086+13C>T	rs199935213	0.00015
NM_002230.4(JUP):c.708-4C>G	rs201313464	0.00014
NM_002230.4(JUP):c.801C>T (p.Ala267=)	rs138397457	0.00014
NM_002230.4(JUP):c.1365C>T (p.Ala455=)	rs77375949	0.00013
NM_002230.4(JUP):c.1959C>T (p.Ser653=)	rs375451560	0.00012
NM_002230.4(JUP):c.1989C>T (p.Arg663=)	rs145175985	0.00011
NM_002230.4(JUP):c.891C>T (p.Tyr297=)	rs397517302	0.00008
NM_002230.4(JUP):c.762C>T (p.Leu254=)	rs781805854	0.00006
NM_002230.4(JUP):c.1914C>T (p.Asn638=)	rs368772249	0.00004
NM_002230.4(JUP):c.2086+14G>A	rs727504485	0.00004
NM_002230.4(JUP):c.945C>T (p.Leu315=)	rs146804895	0.00004
NM_002230.4(JUP):c.1218C>T (p.Asn406=)	rs782565128	0.00003
NM_002230.4(JUP):c.1290A>G (p.Thr430=)	rs897549158	0.00003
NM_002230.4(JUP):c.66C>T (p.Tyr22=)	rs782575179	0.00003
NM_002230.4(JUP):c.351C>T (p.Ala117=)	rs397517300	0.00002
NM_002230.4(JUP):c.2086+7G>C	rs727504940	0.00001
NM_002230.4(JUP):c.1159-13C>T	rs201627219
NM_002230.4(JUP):c.1497+14G>A	rs371853838
NM_002230.4(JUP):c.909+6C>T	rs193922705

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