ClinVar Miner

List of variants in gene CEP83 reported as likely benign for autosomal recessive disease

Included ClinVar conditions (1196):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 176
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HGVS dbSNP gnomAD frequency
NM_016122.3(CEP83):c.835C>T (p.Arg279Cys) rs79068264 0.00228
NM_016122.3(CEP83):c.1232T>C (p.Met411Thr) rs199617764 0.00216
NM_016122.3(CEP83):c.417+3A>G rs181264654 0.00187
NM_016122.3(CEP83):c.1565T>G (p.Leu522Arg) rs150415429 0.00133
NM_016122.3(CEP83):c.1634G>A (p.Arg545His) rs187309637 0.00076
NM_016122.3(CEP83):c.1427G>T (p.Ser476Ile) rs568769580 0.00038
NM_016122.3(CEP83):c.549+18C>T rs376338939 0.00023
NM_016122.3(CEP83):c.1035A>G (p.Gln345=) rs200885817 0.00021
NM_016122.3(CEP83):c.1554A>G (p.Glu518=) rs369224554 0.00016
NM_016122.3(CEP83):c.1560G>A (p.Ala520=) rs375761489 0.00014
NM_016122.3(CEP83):c.696G>A (p.Ala232=) rs199828197 0.00013
NM_016122.3(CEP83):c.1707+8G>A rs370955378 0.00011
NM_016122.3(CEP83):c.1812-7T>C rs780431588 0.00011
NM_016122.3(CEP83):c.549+15A>G rs182004502 0.00011
NM_016122.3(CEP83):c.1889G>A (p.Arg630Gln) rs192349282 0.00010
NM_016122.3(CEP83):c.1812-8T>C rs747379878 0.00009
NM_016122.3(CEP83):c.936A>G (p.Val312=) rs542274719 0.00009
NM_016122.3(CEP83):c.352C>T (p.Leu118=) rs779860994 0.00008
NM_016122.3(CEP83):c.1419+14G>A rs373203051 0.00007
NM_016122.3(CEP83):c.1708-20G>A rs183937564 0.00007
NM_016122.3(CEP83):c.417+13T>C rs201367920 0.00005
NM_016122.3(CEP83):c.87G>A (p.Ser29=) rs769834256 0.00005
NM_016122.3(CEP83):c.933+14T>C rs1041811776 0.00005
NM_016122.3(CEP83):c.1383A>G (p.Ala461=) rs768081253 0.00004
NM_016122.3(CEP83):c.1590G>A (p.Glu530=) rs552958562 0.00004
NM_016122.3(CEP83):c.1713A>G (p.Lys571=) rs777978756 0.00004
NM_016122.3(CEP83):c.1776A>G (p.Lys592=) rs369559006 0.00004
NM_016122.3(CEP83):c.1983A>G (p.Pro661=) rs755790354 0.00004
NM_016122.3(CEP83):c.24T>C (p.Asp8=) rs371676456 0.00004
NM_016122.3(CEP83):c.961C>T (p.Leu321=) rs768055624 0.00004
NM_016122.3(CEP83):c.120A>G (p.Leu40=) rs746359176 0.00003
NM_016122.3(CEP83):c.1470T>C (p.Asn490=) rs780167307 0.00003
NM_016122.3(CEP83):c.1194-13T>G rs759397787 0.00002
NM_016122.3(CEP83):c.1260A>G (p.Gln420=) rs530508070 0.00002
NM_016122.3(CEP83):c.1323G>A (p.Arg441=) rs1202585370 0.00002
NM_016122.3(CEP83):c.1347A>G (p.Leu449=) rs1325616604 0.00002
NM_016122.3(CEP83):c.153A>T (p.Thr51=) rs777508313 0.00002
NM_016122.3(CEP83):c.2016A>G (p.Gln672=) rs949604118 0.00002
NM_016122.3(CEP83):c.2031A>G (p.Leu677=) rs1555214323 0.00002
NM_016122.3(CEP83):c.21C>T (p.Thr7=) rs765216312 0.00002
NM_016122.3(CEP83):c.549+19G>A rs1431950751 0.00002
NM_016122.3(CEP83):c.801+19C>A rs1383301423 0.00002
NM_016122.3(CEP83):c.802-15T>C rs1017125059 0.00002
NM_016122.3(CEP83):c.852A>G (p.Leu284=) rs370191290 0.00002
NM_016122.3(CEP83):c.1011A>G (p.Leu337=) rs761510362 0.00001
NM_016122.3(CEP83):c.1056G>A (p.Gln352=) rs1370476857 0.00001
NM_016122.3(CEP83):c.1284G>A (p.Glu428=) rs775468824 0.00001
NM_016122.3(CEP83):c.1365T>C (p.Ile455=) rs529684300 0.00001
NM_016122.3(CEP83):c.174-12A>T rs772447431 0.00001
NM_016122.3(CEP83):c.174-16C>T rs1463903103 0.00001
NM_016122.3(CEP83):c.1812-4T>A rs1314409801 0.00001
NM_016122.3(CEP83):c.1878T>C (p.His626=) rs1236967361 0.00001
NM_016122.3(CEP83):c.258C>T (p.Leu86=) rs775780724 0.00001
NM_016122.3(CEP83):c.318A>G (p.Lys106=) rs201068376 0.00001
NM_016122.3(CEP83):c.324+18A>C rs1406029531 0.00001
NM_016122.3(CEP83):c.417+13del rs1261616795 0.00001
NM_016122.3(CEP83):c.456C>A (p.Arg152=) rs759273602 0.00001
NM_016122.3(CEP83):c.480A>G (p.Ser160=) rs780444539 0.00001
NM_016122.3(CEP83):c.582A>G (p.Leu194=) rs762860899 0.00001
NM_016122.3(CEP83):c.60A>G (p.Gly20=) rs764043904 0.00001
NM_016122.3(CEP83):c.612A>G (p.Thr204=) rs778151984 0.00001
NM_016122.3(CEP83):c.792A>G (p.Arg264=) rs773428280 0.00001
NM_016122.3(CEP83):c.855A>G (p.Gln285=) rs1277472976 0.00001
NM_016122.3(CEP83):c.921A>G (p.Thr307=) rs911675671 0.00001
NM_016122.3(CEP83):c.933+12T>C rs747884007 0.00001
NM_016122.3(CEP83):c.1048+17C>T
NM_016122.3(CEP83):c.1049-11A>G rs1025973539
NM_016122.3(CEP83):c.1049-19T>G rs886076683
NM_016122.3(CEP83):c.1101G>C (p.Val367=) rs2137015997
NM_016122.3(CEP83):c.1116G>A (p.Lys372=) rs2137015791
NM_016122.3(CEP83):c.1126T>C (p.Leu376=)
NM_016122.3(CEP83):c.114A>G (p.Glu38=)
NM_016122.3(CEP83):c.1193+10T>C
NM_016122.3(CEP83):c.1194-15G>T
NM_016122.3(CEP83):c.1194-15_1194-13del rs2137013138
NM_016122.3(CEP83):c.1203C>G (p.Leu401=) rs189675715
NM_016122.3(CEP83):c.1263T>C (p.Ser421=)
NM_016122.3(CEP83):c.1281A>G (p.Glu427=)
NM_016122.3(CEP83):c.1320C>T (p.Thr440=)
NM_016122.3(CEP83):c.1321A>G (p.Arg441Gly) rs577668407
NM_016122.3(CEP83):c.1343+12A>G
NM_016122.3(CEP83):c.1343+18A>G rs540895757
NM_016122.3(CEP83):c.1343+8A>T
NM_016122.3(CEP83):c.1344-11G>A rs2136541763
NM_016122.3(CEP83):c.1392A>G (p.Glu464=) rs2136541098
NM_016122.3(CEP83):c.1413A>G (p.Leu471=)
NM_016122.3(CEP83):c.1419+13C>T
NM_016122.3(CEP83):c.1419+17G>T
NM_016122.3(CEP83):c.1420-14del rs753878262
NM_016122.3(CEP83):c.1420-17C>G rs2136516500
NM_016122.3(CEP83):c.1446G>A (p.Val482=)
NM_016122.3(CEP83):c.1449T>A (p.Thr483=)
NM_016122.3(CEP83):c.1539T>C (p.Phe513=) rs2136514567
NM_016122.3(CEP83):c.1542A>G (p.Arg514=)
NM_016122.3(CEP83):c.1564C>T (p.Leu522=)
NM_016122.3(CEP83):c.1566A>G (p.Leu522=)
NM_016122.3(CEP83):c.1577+13C>T
NM_016122.3(CEP83):c.1577+9T>G rs2059325161
NM_016122.3(CEP83):c.1578-14C>T rs2059238832
NM_016122.3(CEP83):c.1578-17A>G
NM_016122.3(CEP83):c.1617G>A (p.Lys539=)
NM_016122.3(CEP83):c.1680G>T (p.Leu560=) rs747886072
NM_016122.3(CEP83):c.1707+15T>C
NM_016122.3(CEP83):c.1708-5T>C rs1970107246
NM_016122.3(CEP83):c.173+18A>G
NM_016122.3(CEP83):c.174-5del rs753511833
NM_016122.3(CEP83):c.174-8A>C
NM_016122.3(CEP83):c.1761C>A (p.Val587=) rs752114061
NM_016122.3(CEP83):c.1770A>G (p.Ala590=)
NM_016122.3(CEP83):c.1783T>C (p.Leu595=) rs764718970
NM_016122.3(CEP83):c.1791A>G (p.Thr597=) rs1970094652
NM_016122.3(CEP83):c.1804T>C (p.Leu602=)
NM_016122.3(CEP83):c.1812-20del
NM_016122.3(CEP83):c.1812-6T>C rs2136277072
NM_016122.3(CEP83):c.1824T>C (p.Pro608=)
NM_016122.3(CEP83):c.1863T>C (p.Asp621=) rs1969606999
NM_016122.3(CEP83):c.1971C>T (p.Ser657=)
NM_016122.3(CEP83):c.1980A>T (p.Leu660=)
NM_016122.3(CEP83):c.2001+20G>T rs2136275434
NM_016122.3(CEP83):c.2002-15C>G
NM_016122.3(CEP83):c.2002-18del
NM_016122.3(CEP83):c.201A>G (p.Gln67=) rs1442068953
NM_016122.3(CEP83):c.2028T>C (p.Ser676=)
NM_016122.3(CEP83):c.2036G>A (p.Arg679His)
NM_016122.3(CEP83):c.2046A>G (p.Leu682=) rs1593051395
NM_016122.3(CEP83):c.2061A>G (p.Thr687=)
NM_016122.3(CEP83):c.2076A>G (p.Gln692=) rs2136265647
NM_016122.3(CEP83):c.2097C>T (p.Ser699=) rs201148634
NM_016122.3(CEP83):c.216C>T (p.His72=)
NM_016122.3(CEP83):c.246A>G (p.Glu82=)
NM_016122.3(CEP83):c.288A>T (p.Val96=)
NM_016122.3(CEP83):c.324+11A>G rs2137782009
NM_016122.3(CEP83):c.324+20T>C
NM_016122.3(CEP83):c.324+8A>G
NM_016122.3(CEP83):c.325-12T>G rs2063358599
NM_016122.3(CEP83):c.325-7A>G
NM_016122.3(CEP83):c.325-9A>G
NM_016122.3(CEP83):c.343T>C (p.Leu115=)
NM_016122.3(CEP83):c.360C>A (p.Ala120=)
NM_016122.3(CEP83):c.369A>G (p.Gln123=)
NM_016122.3(CEP83):c.414T>C (p.Asp138=)
NM_016122.3(CEP83):c.417+12A>G
NM_016122.3(CEP83):c.417+16T>C
NM_016122.3(CEP83):c.418-13A>G rs1254452772
NM_016122.3(CEP83):c.418-15G>A
NM_016122.3(CEP83):c.418-8C>T
NM_016122.3(CEP83):c.462A>G (p.Glu154=)
NM_016122.3(CEP83):c.474C>G (p.Leu158=)
NM_016122.3(CEP83):c.495G>A (p.Gln165=)
NM_016122.3(CEP83):c.507T>C (p.Tyr169=)
NM_016122.3(CEP83):c.525A>G (p.Glu175=)
NM_016122.3(CEP83):c.540T>C (p.Tyr180=) rs2063212184
NM_016122.3(CEP83):c.549+14T>C
NM_016122.3(CEP83):c.639T>C (p.Leu213=)
NM_016122.3(CEP83):c.651A>G (p.Lys217=)
NM_016122.3(CEP83):c.711A>G (p.Glu237=)
NM_016122.3(CEP83):c.741T>C (p.Asn247=)
NM_016122.3(CEP83):c.786A>T (p.Thr262=)
NM_016122.3(CEP83):c.801+16C>T
NM_016122.3(CEP83):c.801+20C>G rs747525069
NM_016122.3(CEP83):c.801+7T>G rs2137170599
NM_016122.3(CEP83):c.802-13G>T
NM_016122.3(CEP83):c.802-18A>G
NM_016122.3(CEP83):c.802-7A>G
NM_016122.3(CEP83):c.802-9G>A rs2061516640
NM_016122.3(CEP83):c.831A>G (p.Ala277=) rs2137120833
NM_016122.3(CEP83):c.858A>G (p.Ser286=) rs2137120227
NM_016122.3(CEP83):c.873T>C (p.Asn291=)
NM_016122.3(CEP83):c.888T>C (p.Asn296=)
NM_016122.3(CEP83):c.903T>G (p.Ala301=)
NM_016122.3(CEP83):c.933+18T>G
NM_016122.3(CEP83):c.933+19C>A rs1228748483
NM_016122.3(CEP83):c.933+19_933+20del
NM_016122.3(CEP83):c.933+7T>G
NM_016122.3(CEP83):c.948A>G (p.Lys316=)
NM_016122.3(CEP83):c.984G>C (p.Leu328=) rs2061221198

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