ClinVar Miner

List of variants in gene CEP290 reported as uncertain significance for Meckel syndrome, type 1

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 203
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HGVS dbSNP
NM_025114.3(CEP290):c.6819-?_*171+?dup
NM_025114.4(CEP290):c.1028T>C (p.Leu343Pro)
NM_025114.4(CEP290):c.1042A>T (p.Ser348Cys)
NM_025114.4(CEP290):c.1105G>A (p.Glu369Lys)
NM_025114.4(CEP290):c.1108C>G (p.Gln370Glu)
NM_025114.4(CEP290):c.1142A>G (p.Asn381Ser)
NM_025114.4(CEP290):c.1198A>G (p.Thr400Ala)
NM_025114.4(CEP290):c.1199C>T (p.Thr400Ile) rs773578133
NM_025114.4(CEP290):c.1235C>T (p.Thr412Met)
NM_025114.4(CEP290):c.1387G>A (p.Val463Ile) rs558414868
NM_025114.4(CEP290):c.1390G>C (p.Glu464Gln) rs1437841365
NM_025114.4(CEP290):c.1448C>T (p.Thr483Ile)
NM_025114.4(CEP290):c.1508T>G (p.Leu503Arg)
NM_025114.4(CEP290):c.151C>T (p.Leu51Phe) rs1264332374
NM_025114.4(CEP290):c.1536G>T (p.Lys512Asn) rs750163383
NM_025114.4(CEP290):c.1565A>G (p.Asn522Ser)
NM_025114.4(CEP290):c.1624-5T>G
NM_025114.4(CEP290):c.1625T>C (p.Ile542Thr)
NM_025114.4(CEP290):c.1665A>T (p.Lys555Asn) rs374824892
NM_025114.4(CEP290):c.1667T>A (p.Ile556Asn) rs727503854
NM_025114.4(CEP290):c.1669C>T (p.Arg557Cys) rs561018129
NM_025114.4(CEP290):c.1670G>A (p.Arg557His) rs184018899
NM_025114.4(CEP290):c.1826A>G (p.Asn609Ser)
NM_025114.4(CEP290):c.1921G>C (p.Val641Leu) rs886049883
NM_025114.4(CEP290):c.1945G>A (p.Glu649Lys)
NM_025114.4(CEP290):c.1972A>G (p.Ile658Val)
NM_025114.4(CEP290):c.2033G>T (p.Ser678Ile)
NM_025114.4(CEP290):c.2053G>A (p.Ala685Thr)
NM_025114.4(CEP290):c.2060A>T (p.Glu687Val)
NM_025114.4(CEP290):c.2090C>T (p.Ala697Val)
NM_025114.4(CEP290):c.2098C>T (p.His700Tyr) rs369104382
NM_025114.4(CEP290):c.2129G>C (p.Gly710Ala)
NM_025114.4(CEP290):c.2168G>A (p.Arg723Gln)
NM_025114.4(CEP290):c.2183A>G (p.Asn728Ser) rs752513342
NM_025114.4(CEP290):c.2191C>A (p.Gln731Lys) rs767250881
NM_025114.4(CEP290):c.223A>G (p.Lys75Glu) rs779010679
NM_025114.4(CEP290):c.2245C>T (p.Leu749Phe)
NM_025114.4(CEP290):c.2252G>A (p.Arg751Gln)
NM_025114.4(CEP290):c.2306T>C (p.Ile769Thr)
NM_025114.4(CEP290):c.2367+4T>C rs1413934261
NM_025114.4(CEP290):c.2379_2381del (p.Asn793del)
NM_025114.4(CEP290):c.2414T>C (p.Leu805Pro)
NM_025114.4(CEP290):c.2423A>G (p.Tyr808Cys) rs773007151
NM_025114.4(CEP290):c.2473G>A (p.Glu825Lys) rs779666225
NM_025114.4(CEP290):c.2479C>G (p.Leu827Val) rs201569048
NM_025114.4(CEP290):c.2484-18GTTTT[4] rs745522483
NM_025114.4(CEP290):c.2546A>T (p.Asp849Val) rs1313832672
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile) rs764963626
NM_025114.4(CEP290):c.256C>A (p.Gln86Lys)
NM_025114.4(CEP290):c.2615C>T (p.Ser872Leu)
NM_025114.4(CEP290):c.2616G>A (p.Ser872=) rs776360559
NM_025114.4(CEP290):c.2667G>T (p.Leu889Phe)
NM_025114.4(CEP290):c.2704A>T (p.Thr902Ser)
NM_025114.4(CEP290):c.2728C>T (p.Leu910Phe)
NM_025114.4(CEP290):c.2951A>T (p.Asn984Ile)
NM_025114.4(CEP290):c.2955G>A (p.Met985Ile)
NM_025114.4(CEP290):c.3013G>C (p.Glu1005Gln)
NM_025114.4(CEP290):c.3028A>G (p.Ile1010Val)
NM_025114.4(CEP290):c.3098A>C (p.Lys1033Thr)
NM_025114.4(CEP290):c.3115A>C (p.Ser1039Arg)
NM_025114.4(CEP290):c.3124A>G (p.Lys1042Glu)
NM_025114.4(CEP290):c.3132G>T (p.Lys1044Asn) rs762342726
NM_025114.4(CEP290):c.3178A>G (p.Thr1060Ala)
NM_025114.4(CEP290):c.31A>G (p.Met11Val) rs185939120
NM_025114.4(CEP290):c.3215G>A (p.Arg1072Gln)
NM_025114.4(CEP290):c.3250C>G (p.Arg1084Gly) rs372918770
NM_025114.4(CEP290):c.3250C>T (p.Arg1084Trp)
NM_025114.4(CEP290):c.3309+2_3309+3dup rs886049881
NM_025114.4(CEP290):c.331C>T (p.Arg111Trp)
NM_025114.4(CEP290):c.3323A>G (p.Asn1108Ser)
NM_025114.4(CEP290):c.3410G>A (p.Arg1137Gln)
NM_025114.4(CEP290):c.3418G>A (p.Glu1140Lys) rs766095901
NM_025114.4(CEP290):c.3428A>G (p.Lys1143Arg)
NM_025114.4(CEP290):c.3442C>G (p.Leu1148Val) rs372190684
NM_025114.4(CEP290):c.3481A>T (p.Ile1161Phe)
NM_025114.4(CEP290):c.3573+3A>G
NM_025114.4(CEP290):c.3593C>T (p.Ser1198Leu) rs372640024
NM_025114.4(CEP290):c.3605A>G (p.Lys1202Arg) rs375065584
NM_025114.4(CEP290):c.3660G>T (p.Lys1220Asn) rs201982308
NM_025114.4(CEP290):c.3709C>T (p.Arg1237Cys)
NM_025114.4(CEP290):c.3710G>T (p.Arg1237Leu)
NM_025114.4(CEP290):c.3731A>G (p.Glu1244Gly)
NM_025114.4(CEP290):c.3773A>G (p.Asn1258Ser)
NM_025114.4(CEP290):c.3778G>A (p.Ala1260Thr)
NM_025114.4(CEP290):c.3787C>A (p.Leu1263Met) rs370395204
NM_025114.4(CEP290):c.3791G>A (p.Arg1264His)
NM_025114.4(CEP290):c.3826G>A (p.Gly1276Arg) rs267603712
NM_025114.4(CEP290):c.3853A>G (p.Lys1285Glu)
NM_025114.4(CEP290):c.3858C>A (p.Phe1286Leu) rs1353300022
NM_025114.4(CEP290):c.3950A>C (p.Lys1317Thr) rs778137534
NM_025114.4(CEP290):c.4031T>C (p.Val1344Ala) rs369227219
NM_025114.4(CEP290):c.4045A>G (p.Met1349Val) rs923112337
NM_025114.4(CEP290):c.4063C>T (p.Arg1355Cys) rs376425111
NM_025114.4(CEP290):c.4064G>A (p.Arg1355His) rs548558619
NM_025114.4(CEP290):c.4088G>A (p.Arg1363Gln)
NM_025114.4(CEP290):c.4121A>G (p.Tyr1374Cys)
NM_025114.4(CEP290):c.4150C>T (p.Arg1384Cys) rs794727563
NM_025114.4(CEP290):c.4240C>G (p.Leu1414Val)
NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg) rs201504946
NM_025114.4(CEP290):c.4268G>A (p.Arg1423His)
NM_025114.4(CEP290):c.4288A>C (p.Asn1430His) rs749261915
NM_025114.4(CEP290):c.4292C>T (p.Ala1431Val)
NM_025114.4(CEP290):c.4298A>G (p.Gln1433Arg)
NM_025114.4(CEP290):c.4320A>T (p.Gly1440=)
NM_025114.4(CEP290):c.4360G>A (p.Glu1454Lys)
NM_025114.4(CEP290):c.4383G>T (p.Lys1461Asn) rs769732992
NM_025114.4(CEP290):c.4411C>T (p.Arg1471Trp)
NM_025114.4(CEP290):c.442-11del rs199511358
NM_025114.4(CEP290):c.442-22_442-21dup rs199511358
NM_025114.4(CEP290):c.442-22dup rs199511358
NM_025114.4(CEP290):c.4485A>G (p.Ile1495Met)
NM_025114.4(CEP290):c.4501G>A (p.Val1501Ile)
NM_025114.4(CEP290):c.4523G>A (p.Arg1508Gln)
NM_025114.4(CEP290):c.4555A>T (p.Ile1519Leu) rs200817579
NM_025114.4(CEP290):c.4577A>T (p.Glu1526Val)
NM_025114.4(CEP290):c.4586C>G (p.Pro1529Arg)
NM_025114.4(CEP290):c.4634T>C (p.Met1545Thr)
NM_025114.4(CEP290):c.4681C>T (p.Arg1561Cys)
NM_025114.4(CEP290):c.4730A>G (p.His1577Arg)
NM_025114.4(CEP290):c.4754A>G (p.His1585Arg) rs199826787
NM_025114.4(CEP290):c.4805C>T (p.Thr1602Met) rs369451049
NM_025114.4(CEP290):c.4817T>C (p.Leu1606Ser)
NM_025114.4(CEP290):c.4837C>G (p.Pro1613Ala) rs769280708
NM_025114.4(CEP290):c.4894G>A (p.Glu1632Lys)
NM_025114.4(CEP290):c.4938A>G (p.Lys1646=) rs371582975
NM_025114.4(CEP290):c.4978T>A (p.Leu1660Ile) rs372557655
NM_025114.4(CEP290):c.502C>T (p.Arg168Cys) rs760856790
NM_025114.4(CEP290):c.5083G>T (p.Asp1695Tyr) rs1209477107
NM_025114.4(CEP290):c.5125C>A (p.Gln1709Lys) rs367580207
NM_025114.4(CEP290):c.5145T>G (p.Asn1715Lys) rs568619750
NM_025114.4(CEP290):c.5158A>G (p.Thr1720Ala) rs1555205391
NM_025114.4(CEP290):c.5167A>G (p.Met1723Val) rs542400806
NM_025114.4(CEP290):c.5185C>T (p.Arg1729Trp) rs201353893
NM_025114.4(CEP290):c.5204C>T (p.Ala1735Val)
NM_025114.4(CEP290):c.5226+5_5226+8del
NM_025114.4(CEP290):c.5227-14del rs747878752
NM_025114.4(CEP290):c.5228C>T (p.Ala1743Val) rs951910051
NM_025114.4(CEP290):c.523C>A (p.Gln175Lys) rs202159966
NM_025114.4(CEP290):c.5254C>T (p.Arg1752Trp)
NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys) rs373307908
NM_025114.4(CEP290):c.5285G>A (p.Arg1762His)
NM_025114.4(CEP290):c.5338G>A (p.Val1780Ile) rs368492668
NM_025114.4(CEP290):c.534G>T (p.Gln178His)
NM_025114.4(CEP290):c.5371G>C (p.Val1791Leu)
NM_025114.4(CEP290):c.5431A>G (p.Arg1811Gly)
NM_025114.4(CEP290):c.5449G>T (p.Asp1817Tyr)
NM_025114.4(CEP290):c.5543A>G (p.Asp1848Gly) rs563967678
NM_025114.4(CEP290):c.5577_5579del (p.Ser1859_Gly1860delinsArg)
NM_025114.4(CEP290):c.563A>T (p.Asp188Val) rs746511786
NM_025114.4(CEP290):c.5665G>C (p.Glu1889Gln) rs186330724
NM_025114.4(CEP290):c.5733G>T (p.Arg1911Ser) rs1565813077
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro) rs778030031
NM_025114.4(CEP290):c.5813C>T (p.Thr1938Ile)
NM_025114.4(CEP290):c.5830A>T (p.Asn1944Tyr)
NM_025114.4(CEP290):c.5852C>G (p.Ala1951Gly)
NM_025114.4(CEP290):c.5885G>A (p.Arg1962Lys)
NM_025114.4(CEP290):c.58C>T (p.Arg20Cys)
NM_025114.4(CEP290):c.5921T>C (p.Val1974Ala)
NM_025114.4(CEP290):c.6070T>C (p.Tyr2024His)
NM_025114.4(CEP290):c.6116A>G (p.Asp2039Gly) rs192259143
NM_025114.4(CEP290):c.6218T>C (p.Ile2073Thr)
NM_025114.4(CEP290):c.6271-8T>C
NM_025114.4(CEP290):c.6320A>G (p.Lys2107Arg)
NM_025114.4(CEP290):c.6354A>T (p.Arg2118Ser)
NM_025114.4(CEP290):c.6371G>A (p.Gly2124Glu)
NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly) rs184323010
NM_025114.4(CEP290):c.6452T>G (p.Leu2151Trp)
NM_025114.4(CEP290):c.6489G>A (p.Met2163Ile)
NM_025114.4(CEP290):c.6547C>T (p.His2183Tyr) rs535765861
NM_025114.4(CEP290):c.6572A>T (p.His2191Leu)
NM_025114.4(CEP290):c.6580T>A (p.Ser2194Thr)
NM_025114.4(CEP290):c.6599A>G (p.Glu2200Gly)
NM_025114.4(CEP290):c.6628C>T (p.Arg2210Cys) rs374852145
NM_025114.4(CEP290):c.6629G>A (p.Arg2210His) rs371833544
NM_025114.4(CEP290):c.6671G>A (p.Arg2224Gln)
NM_025114.4(CEP290):c.6686A>G (p.Asn2229Ser)
NM_025114.4(CEP290):c.671C>T (p.Thr224Ile)
NM_025114.4(CEP290):c.6764G>A (p.Gly2255Asp) rs377561473
NM_025114.4(CEP290):c.6778G>C (p.Gly2260Arg)
NM_025114.4(CEP290):c.6791A>G (p.Lys2264Arg)
NM_025114.4(CEP290):c.6807T>G (p.Ile2269Met) rs1355908667
NM_025114.4(CEP290):c.6941A>G (p.Asn2314Ser)
NM_025114.4(CEP290):c.6960+5_6960+8del
NM_025114.4(CEP290):c.7007G>A (p.Gly2336Asp) rs863224794
NM_025114.4(CEP290):c.7015C>T (p.Arg2339Trp)
NM_025114.4(CEP290):c.7075A>C (p.Ile2359Leu) rs183387506
NM_025114.4(CEP290):c.7079A>C (p.His2360Pro)
NM_025114.4(CEP290):c.7084A>T (p.Ile2362Leu)
NM_025114.4(CEP290):c.7155A>G (p.Ile2385Met)
NM_025114.4(CEP290):c.7169C>G (p.Thr2390Arg)
NM_025114.4(CEP290):c.7209+11_7209+14del rs750259100
NM_025114.4(CEP290):c.722A>G (p.Lys241Arg) rs199790246
NM_025114.4(CEP290):c.753G>T (p.Glu251Asp)
NM_025114.4(CEP290):c.758_760del (p.Met253del)
NM_025114.4(CEP290):c.784G>A (p.Ala262Thr)
NM_025114.4(CEP290):c.787A>G (p.Ile263Val)
NM_025114.4(CEP290):c.790G>T (p.Val264Leu) rs1242440672
NM_025114.4(CEP290):c.79A>G (p.Asn27Asp)
NM_025114.4(CEP290):c.814G>A (p.Asp272Asn) rs866480852
NM_025114.4(CEP290):c.838C>T (p.His280Tyr)
NM_025114.4(CEP290):c.894A>T (p.Glu298Asp)
NM_025114.4(CEP290):c.974T>C (p.Ile325Thr) rs769705837
NM_025114.4(CEP290):c.998A>C (p.Asn333Thr)

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