ClinVar Miner

List of variants in gene CEP290 reported as uncertain significance for abdominal and pelvic region disorder

Included ClinVar conditions (891):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 108
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HGVS dbSNP
NM_025114.3(CEP290):c.-118C>G rs886049887
NM_025114.3(CEP290):c.-147A>T rs753567406
NM_025114.3(CEP290):c.-208C>T rs551070690
NM_025114.3(CEP290):c.-235T>G rs569632834
NM_025114.3(CEP290):c.-295T>C rs374616539
NM_025114.3(CEP290):c.-33G>T rs139415563
NM_025114.3(CEP290):c.-38G>C rs886049886
NM_025114.3(CEP290):c.-41C>T rs759820573
NM_025114.3(CEP290):c.-96C>T rs528270888
NM_025114.3(CEP290):c.1092T>G (p.Ile364Met) rs201988582
NM_025114.3(CEP290):c.1199C>T (p.Thr400Ile) rs773578133
NM_025114.3(CEP290):c.1345A>G (p.Lys449Glu) rs747463477
NM_025114.3(CEP290):c.1359G>A (p.Ser453=) rs779195306
NM_025114.3(CEP290):c.1387G>A (p.Val463Ile) rs558414868
NM_025114.3(CEP290):c.1390G>C (p.Glu464Gln)
NM_025114.3(CEP290):c.151C>T (p.Leu51Phe) rs1264332374
NM_025114.3(CEP290):c.1549T>C (p.Leu517=) rs752942122
NM_025114.3(CEP290):c.1623+10G>A rs377529198
NM_025114.3(CEP290):c.1623+10G>T rs377529198
NM_025114.3(CEP290):c.1624-5T>C rs142742071
NM_025114.3(CEP290):c.1665A>T (p.Lys555Asn) rs374824892
NM_025114.3(CEP290):c.1670G>A (p.Arg557His) rs184018899
NM_025114.3(CEP290):c.1908A>T (p.Lys636Asn) rs199747962
NM_025114.3(CEP290):c.1921G>C (p.Val641Leu) rs886049883
NM_025114.3(CEP290):c.2098C>T (p.His700Tyr) rs369104382
NM_025114.3(CEP290):c.2174A>C (p.Glu725Ala) rs375038986
NM_025114.3(CEP290):c.2191C>A (p.Gln731Lys) rs767250881
NM_025114.3(CEP290):c.2217+3G>A rs765291878
NM_025114.3(CEP290):c.226G>A (p.Ala76Thr) rs373913704
NM_025114.3(CEP290):c.2367+4T>C rs1413934261
NM_025114.3(CEP290):c.2423A>G (p.Tyr808Cys)
NM_025114.3(CEP290):c.2447G>A (p.Arg816His) rs768448895
NM_025114.3(CEP290):c.2473G>A (p.Glu825Lys)
NM_025114.3(CEP290):c.2479C>G (p.Leu827Val)
NM_025114.3(CEP290):c.2484-8_2484-4dupGTTTT rs745522483
NM_025114.3(CEP290):c.2551G>A (p.Val851Ile) rs764963626
NM_025114.3(CEP290):c.2616G>A (p.Ser872=) rs776360559
NM_025114.3(CEP290):c.2861A>G (p.Asp954Gly) rs886049882
NM_025114.3(CEP290):c.3132G>T (p.Lys1044Asn)
NM_025114.3(CEP290):c.31A>G (p.Met11Val) rs185939120
NM_025114.3(CEP290):c.3230A>G (p.Gln1077Arg) rs200668620
NM_025114.3(CEP290):c.3309+3_3309+4dupTT rs886049881
NM_025114.3(CEP290):c.341G>A (p.Arg114His) rs150296134
NM_025114.3(CEP290):c.3442C>G (p.Leu1148Val) rs372190684
NM_025114.3(CEP290):c.3465G>A (p.Leu1155=) rs150138016
NM_025114.3(CEP290):c.3574-15T>A rs565414938
NM_025114.3(CEP290):c.3654T>C (p.Leu1218=) rs201838492
NM_025114.3(CEP290):c.3660G>T (p.Lys1220Asn) rs201982308
NM_025114.3(CEP290):c.3787C>A (p.Leu1263Met) rs370395204
NM_025114.3(CEP290):c.3790C>T (p.Arg1264Cys) rs139998038
NM_025114.3(CEP290):c.3826G>A (p.Gly1276Arg) rs267603712
NM_025114.3(CEP290):c.3858C>A (p.Phe1286Leu) rs1353300022
NM_025114.3(CEP290):c.3950A>C (p.Lys1317Thr) rs778137534
NM_025114.3(CEP290):c.4045A>G (p.Met1349Val) rs923112337
NM_025114.3(CEP290):c.4064G>A (p.Arg1355His) rs548558619
NM_025114.3(CEP290):c.4087C>T (p.Arg1363Trp) rs181121175
NM_025114.3(CEP290):c.4151G>A (p.Arg1384His) rs143152287
NM_025114.3(CEP290):c.4237G>C (p.Asp1413His) rs183655276
NM_025114.3(CEP290):c.4250A>G (p.Gln1417Arg) rs201504946
NM_025114.3(CEP290):c.4257C>A (p.Asp1419Glu) rs771898047
NM_025114.3(CEP290):c.4288A>C (p.Asn1430His) rs749261915
NM_025114.3(CEP290):c.4293G>A (p.Ala1431=) rs377614744
NM_025114.3(CEP290):c.442-11delT rs199511358
NM_025114.3(CEP290):c.442-11dupT rs199511358
NM_025114.3(CEP290):c.442-12_442-11dupTT rs199511358
NM_025114.3(CEP290):c.4555A>T (p.Ile1519Leu) rs200817579
NM_025114.3(CEP290):c.4754A>G (p.His1585Arg) rs199826787
NM_025114.3(CEP290):c.4806G>A (p.Thr1602=) rs201614215
NM_025114.3(CEP290):c.4837C>G (p.Pro1613Ala) rs769280708
NM_025114.3(CEP290):c.4854G>T (p.Lys1618Asn) rs747852436
NM_025114.3(CEP290):c.4938A>G (p.Lys1646=) rs371582975
NM_025114.3(CEP290):c.4978T>A (p.Leu1660Ile) rs372557655
NM_025114.3(CEP290):c.5023A>G (p.Asn1675Asp) rs886049880
NM_025114.3(CEP290):c.503G>A (p.Arg168His) rs200063017
NM_025114.3(CEP290):c.5055G>A (p.Ala1685=) rs73192874
NM_025114.3(CEP290):c.5099A>G (p.Glu1700Gly) rs886049879
NM_025114.3(CEP290):c.5125C>A (p.Gln1709Lys) rs367580207
NM_025114.3(CEP290):c.5158A>G (p.Thr1720Ala) rs1555205391
NM_025114.3(CEP290):c.5167A>G (p.Met1723Val) rs542400806
NM_025114.3(CEP290):c.5199A>G (p.Gln1733=) rs79644671
NM_025114.3(CEP290):c.5227-14delT rs747878752
NM_025114.3(CEP290):c.5284C>T (p.Arg1762Cys) rs373307908
NM_025114.3(CEP290):c.5322C>T (p.Leu1774=) rs117370446
NM_025114.3(CEP290):c.5338G>A (p.Val1780Ile) rs368492668
NM_025114.3(CEP290):c.54G>A (p.Leu18=) rs886049885
NM_025114.3(CEP290):c.5506A>G (p.Ile1836Val) rs11104729
NM_025114.3(CEP290):c.5543A>G (p.Asp1848Gly) rs563967678
NM_025114.3(CEP290):c.5587-8T>C rs886049878
NM_025114.3(CEP290):c.5709+12A>G rs371010287
NM_025114.3(CEP290):c.5733G>T (p.Arg1911Ser)
NM_025114.3(CEP290):c.5764A>C (p.Ile1922Leu) rs746949236
NM_025114.3(CEP290):c.5842G>T (p.Asp1948Tyr) rs886049877
NM_025114.3(CEP290):c.5998A>G (p.Ile2000Val) rs183071230
NM_025114.3(CEP290):c.6116A>G (p.Asp2039Gly) rs192259143
NM_025114.3(CEP290):c.6392A>G (p.Glu2131Gly) rs184323010
NM_025114.3(CEP290):c.6547C>T (p.His2183Tyr) rs535765861
NM_025114.3(CEP290):c.6628C>T (p.Arg2210Cys) rs374852145
NM_025114.3(CEP290):c.6629G>A (p.Arg2210His) rs371833544
NM_025114.3(CEP290):c.6819-?_*171+?dup
NM_025114.3(CEP290):c.7007G>A (p.Gly2336Asp) rs863224794
NM_025114.3(CEP290):c.7186G>T (p.Asp2396Tyr) rs189556433
NM_025114.3(CEP290):c.7209+11_7209+14delATTA rs750259100
NM_025114.3(CEP290):c.7209+7T>G rs745813087
NM_025114.3(CEP290):c.790G>T (p.Val264Leu)
NM_025114.3(CEP290):c.814G>A (p.Asp272Asn) rs866480852
NM_025114.3(CEP290):c.942+6T>G rs886049884
NM_025114.3(CEP290):c.963T>A (p.Asp321Glu) rs774072453
NM_025114.3(CEP290):c.974T>C (p.Ile325Thr)

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