List of variants in gene JUP reported as uncertain significance for not specified

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: 61

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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.892G>A (p.Gly298Ser)	rs199597864	0.00009
NM_002230.4(JUP):c.809T>A (p.Leu270Gln)	rs794729040	0.00008
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.412G>A (p.Glu138Lys)	rs150245906	0.00005
NM_002230.4(JUP):c.989C>A (p.Thr330Asn)	rs782145797	0.00005
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.1219G>A (p.Val407Ile)	rs370913228	0.00004
NM_002230.4(JUP):c.1331G>A (p.Arg444His)	rs369507567	0.00004
NM_002230.4(JUP):c.161C>T (p.Thr54Met)	rs782529328	0.00004
NM_002230.4(JUP):c.2105G>A (p.Arg702His)	rs200690479	0.00004
NM_002230.4(JUP):c.2122G>A (p.Asp708Asn)	rs781804177	0.00004
NM_002230.4(JUP):c.607C>T (p.Arg203Cys)	rs147354282	0.00004
NM_002230.4(JUP):c.624C>G (p.Ile208Met)	rs566435665	0.00004
NM_002230.4(JUP):c.1379G>A (p.Arg460His)	rs397517296	0.00003
NM_002230.4(JUP):c.1729C>T (p.Arg577Cys)	rs782354654	0.00003
NM_002230.4(JUP):c.1933G>A (p.Ala645Thr)	rs727504778	0.00003
NM_002230.4(JUP):c.1996G>A (p.Val666Met)	rs372369061	0.00003
NM_002230.4(JUP):c.1324A>T (p.Ile442Phe)	rs142213474	0.00002
NM_002230.4(JUP):c.1753A>G (p.Thr585Ala)	rs782653485	0.00002
NM_002230.4(JUP):c.1804C>T (p.Arg602Cys)	rs199511559	0.00002
NM_002230.4(JUP):c.286G>A (p.Glu96Lys)	rs191683892	0.00002
NM_002230.4(JUP):c.682A>G (p.Ile228Val)	rs374566089	0.00002
NM_002230.4(JUP):c.902A>G (p.Glu301Gly)	rs782058451	0.00002
NM_002230.4(JUP):c.951G>C (p.Gln317His)	rs782215140	0.00002
NM_002230.4(JUP):c.100G>A (p.Val34Met)	rs794729029	0.00001
NM_002230.4(JUP):c.1213G>A (p.Val405Ile)	rs200019016	0.00001
NM_002230.4(JUP):c.1333G>C (p.Ala445Pro)	rs782465430	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.1774-8C>T	rs781837434	0.00001
NM_002230.4(JUP):c.209-8G>A	rs1165044090	0.00001
NM_002230.4(JUP):c.708-7C>T	rs397517301	0.00001
NM_002230.4(JUP):c.950A>T (p.Gln317Leu)	rs782509792	0.00001
NM_002230.4(JUP):c.1153A>C (p.Lys385Gln)	rs727505135
NM_002230.4(JUP):c.1232C>T (p.Ala411Val)	rs1060502680
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.1730G>T (p.Arg577Leu)	rs373434456
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.1993T>C (p.Ser665Pro)	rs1597780746
NM_002230.4(JUP):c.2046+7A>G
NM_002230.4(JUP):c.389TCA[1] (p.Ile131del)	rs781818082
NM_002230.4(JUP):c.401A>G (p.Gln134Arg)	rs1057518313
NM_002230.4(JUP):c.572G>T (p.Arg191Leu)	rs143502391
NM_002230.4(JUP):c.737C>A (p.Ala246Asp)	rs1419166927
NM_002230.4(JUP):c.745A>C (p.Thr249Pro)	rs2143652715
NM_002230.4(JUP):c.842A>G (p.Asn281Ser)	rs574465470
NM_002230.4(JUP):c.886G>T (p.Ala296Ser)
NM_002230.4(JUP):c.905G>A (p.Ser302Asn)	rs570714124

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