ClinVar Miner

List of variants in gene CEP290 reported as likely benign for Meckel syndrome, type 1

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 77
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HGVS dbSNP
NM_025114.4(CEP290):c.1057C>T (p.Leu353=) rs1036812157
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met) rs201988582
NM_025114.4(CEP290):c.1104C>T (p.Thr368=) rs483352755
NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly) rs200211587
NM_025114.4(CEP290):c.1360-4T>G rs200328638
NM_025114.4(CEP290):c.1386C>T (p.Val462=) rs886038689
NM_025114.4(CEP290):c.1440A>G (p.Glu480=) rs777299440
NM_025114.4(CEP290):c.1455A>G (p.Glu485=) rs755893750
NM_025114.4(CEP290):c.1523-6T>C rs755202424
NM_025114.4(CEP290):c.1549T>C (p.Leu517=) rs752942122
NM_025114.4(CEP290):c.1623+10G>T rs377529198
NM_025114.4(CEP290):c.1711+8C>T rs765158159
NM_025114.4(CEP290):c.1729C>T (p.Leu577=) rs201295052
NM_025114.4(CEP290):c.1825-8T>G rs769405843
NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn) rs199747962
NM_025114.4(CEP290):c.1918T>C (p.Leu640=) rs541138095
NM_025114.4(CEP290):c.204G>A (p.Leu68=) rs780930630
NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala) rs375038986
NM_025114.4(CEP290):c.226G>A (p.Ala76Thr) rs373913704
NM_025114.4(CEP290):c.2487A>G (p.Glu829=) rs371159780
NM_025114.4(CEP290):c.2638G>T (p.Ala880Ser) rs147362398
NM_025114.4(CEP290):c.2778T>C (p.Ala926=) rs767032720
NM_025114.4(CEP290):c.2873C>T (p.Ser958Phe) rs546463648
NM_025114.4(CEP290):c.2928C>T (p.Tyr976=) rs1393060819
NM_025114.4(CEP290):c.3024G>A (p.Glu1008=) rs1227765663
NM_025114.4(CEP290):c.3081C>A (p.Ala1027=) rs779561006
NM_025114.4(CEP290):c.3135A>G (p.Lys1045=) rs370622537
NM_025114.4(CEP290):c.3246C>T (p.His1082=) rs539042966
NM_025114.4(CEP290):c.3273G>A (p.Glu1091=) rs771584252
NM_025114.4(CEP290):c.3310-7T>G rs373298179
NM_025114.4(CEP290):c.341G>A (p.Arg114His) rs150296134
NM_025114.4(CEP290):c.3420A>G (p.Glu1140=) rs762723146
NM_025114.4(CEP290):c.3442C>G (p.Leu1148Val) rs372190684
NM_025114.4(CEP290):c.3486C>T (p.Ala1162=) rs376583223
NM_025114.4(CEP290):c.3498T>G (p.Val1166=) rs750099379
NM_025114.4(CEP290):c.3564A>G (p.Leu1188=) rs900618917
NM_025114.4(CEP290):c.3594G>A (p.Ser1198=) rs376645523
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys) rs139998038
NM_025114.4(CEP290):c.4068T>G (p.Leu1356=) rs377227262
NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn) rs184143186
NM_025114.4(CEP290):c.4182G>A (p.Val1394=) rs371530941
NM_025114.4(CEP290):c.4293G>A (p.Ala1431=) rs377614744
NM_025114.4(CEP290):c.4428A>G (p.Ser1476=) rs1206552589
NM_025114.4(CEP290):c.4441C>T (p.Leu1481=) rs1220385672
NM_025114.4(CEP290):c.4578G>A (p.Glu1526=) rs775294433
NM_025114.4(CEP290):c.5012+10C>T rs191369238
NM_025114.4(CEP290):c.503G>A (p.Arg168His) rs200063017
NM_025114.4(CEP290):c.5055G>A (p.Ala1685=) rs73192874
NM_025114.4(CEP290):c.5127G>T (p.Gln1709His) rs757738553
NM_025114.4(CEP290):c.5164A>G (p.Thr1722Ala) rs375817905
NM_025114.4(CEP290):c.5255G>A (p.Arg1752Gln) rs116469117
NM_025114.4(CEP290):c.5256G>A (p.Arg1752=) rs754590700
NM_025114.4(CEP290):c.5391T>C (p.Asn1797=) rs1034544936
NM_025114.4(CEP290):c.5421A>G (p.Thr1807=) rs370464321
NM_025114.4(CEP290):c.5574C>T (p.Thr1858=) rs775652694
NM_025114.4(CEP290):c.5586+9A>G rs746293904
NM_025114.4(CEP290):c.5766A>T (p.Ile1922=) rs1027531979
NM_025114.4(CEP290):c.5776C>A (p.Arg1926=) rs561598805
NM_025114.4(CEP290):c.5896A>G (p.Thr1966Ala) rs780570235
NM_025114.4(CEP290):c.6001T>C (p.Leu2001=) rs112738303
NM_025114.4(CEP290):c.6005A>G (p.Tyr2002Cys) rs573872325
NM_025114.4(CEP290):c.609C>T (p.Asp203=) rs767725492
NM_025114.4(CEP290):c.6132T>G (p.Pro2044=) rs765002773
NM_025114.4(CEP290):c.6358-4G>A rs369154492
NM_025114.4(CEP290):c.6358-5C>T rs372986399
NM_025114.4(CEP290):c.6452T>C (p.Leu2151Ser) rs191613017
NM_025114.4(CEP290):c.6582C>T (p.Ser2194=) rs1592739990
NM_025114.4(CEP290):c.660T>C (p.Asp220=) rs777201814
NM_025114.4(CEP290):c.6666A>G (p.Lys2222=) rs544886883
NM_025114.4(CEP290):c.6870T>C (p.Asn2290=) rs572443869
NM_025114.4(CEP290):c.6909A>C (p.Ala2303=) rs774138995
NM_025114.4(CEP290):c.6960+9C>T rs373226012
NM_025114.4(CEP290):c.7005A>G (p.Gln2335=) rs1592722143
NM_025114.4(CEP290):c.834C>T (p.Asn278=) rs567493515
NM_025114.4(CEP290):c.943-4C>T rs199770158
NM_025114.4(CEP290):c.943-8A>T rs200729812

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