ClinVar Miner

List of variants reported as benign for Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.2268A>G (p.Ser756=) rs2468255 0.91372
NM_025114.4(CEP290):c.853-12_853-11insG rs71082425 0.87640
NM_025114.4(CEP290):c.2055T>C (p.Ala685=) rs45465996 0.11965
NM_025114.4(CEP290):c.2268= (p.Ser756=) rs2468255 0.08628
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu) rs11104738 0.05247
NM_025114.4(CEP290):c.6357+20A>T rs7971699 0.05185
NM_025114.4(CEP290):c.442-19T>A rs113132803 0.05166
NM_025114.4(CEP290):c.3710G>A (p.Arg1237His) rs7307793 0.05017
NM_025114.4(CEP290):c.5709+18C>A rs7973969 0.05003
NM_025114.4(CEP290):c.2717T>G (p.Leu906Trp) rs7970228 0.04262
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=) rs117122459 0.02377
NM_025114.4(CEP290):c.251-10A>T rs190383141 0.02052
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly) rs79705698 0.02050
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln) rs45502896 0.01608
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=) rs150138016 0.00760
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020 0.00714
NM_025114.4(CEP290):c.1624-5T>C rs142742071 0.00704
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=) rs79644671 0.00692
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val) rs75220808 0.00637
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu) rs147371999 0.00585
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025 0.00488
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val) rs11104729 0.00463
NM_025114.4(CEP290):c.1522+6C>T rs148446546 0.00371
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) rs117370446 0.00329
NM_025114.4(CEP290):c.6960+10G>A rs75011402 0.00305
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) rs182369459 0.00231
NM_025114.4(CEP290):c.251-11T>A rs200666995 0.00200
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His) rs183655276 0.00187
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=) rs201838492 0.00133
NM_025114.4(CEP290):c.4476A>G (p.Glu1492=) rs181248369 0.00106
NM_025114.4(CEP290):c.1716A>G (p.Leu572=) rs372349042 0.00098
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=) rs201614215 0.00091
NM_025114.4(CEP290):c.6646-16T>C rs367543543 0.00076
NM_025114.4(CEP290):c.3574-3C>G rs781450470 0.00062
NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr) rs189556433 0.00058
NM_025114.4(CEP290):c.2595C>T (p.Leu865=) rs114632733 0.00046
NM_025114.4(CEP290):c.5364+14C>T rs529387927 0.00032
NM_025114.4(CEP290):c.6078A>G (p.Gln2026=) rs763570903 0.00029
NM_025114.4(CEP290):c.384T>C (p.Asp128=) rs76267039 0.00026
NM_025114.4(CEP290):c.3574-15T>A rs565414938 0.00022
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467 0.00022
NM_025114.4(CEP290):c.3955T>C (p.Leu1319=) rs182851622 0.00017
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp) rs140236736 0.00016
NM_025114.4(CEP290):c.5521G>A (p.Glu1841Lys) rs200158553 0.00011
NM_025114.4(CEP290):c.6806T>C (p.Ile2269Thr) rs200090371 0.00011
NM_025114.4(CEP290):c.4695A>G (p.Lys1565=) rs189871589 0.00008
NM_025114.4(CEP290):c.5226+19T>C rs547955106 0.00008
NM_025114.4(CEP290):c.5227-9A>G rs571981633 0.00007
NM_025114.4(CEP290):c.2587-19T>C rs755086278 0.00001
NM_025114.4(CEP290):c.181-10del rs1302625844
NM_025114.4(CEP290):c.181-10dup rs1302625844
NM_025114.4(CEP290):c.1825-17CT[2] rs367600498
NM_025114.4(CEP290):c.2052+15dup rs1249161159
NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly) rs200454865
NM_025114.4(CEP290):c.2218-13dup rs143621850
NM_025114.4(CEP290):c.2218-5del rs143621850
NM_025114.4(CEP290):c.2484-18GTTTT[4] rs745522483
NM_025114.4(CEP290):c.2484-3dup rs2500633011
NM_025114.4(CEP290):c.2484-9del rs1189055838
NM_025114.4(CEP290):c.251-11del rs752284551
NM_025114.4(CEP290):c.251-19dup rs752284551
NM_025114.4(CEP290):c.3574-10_3574-9del rs10717563
NM_025114.4(CEP290):c.3574-16dup rs10717563
NM_025114.4(CEP290):c.3574-9del rs10717563
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp) rs181121175
NM_025114.4(CEP290):c.4195-3del rs748771739
NM_025114.4(CEP290):c.4195-3dup rs748771739
NM_025114.4(CEP290):c.441+17_441+18del
NM_025114.4(CEP290):c.441+18del rs543419084
NM_025114.4(CEP290):c.441+18dup rs543419084
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.495+8dup rs2501541194
NM_025114.4(CEP290):c.5227-14del rs747878752
NM_025114.4(CEP290):c.5227-23dup rs747878752
NM_025114.4(CEP290):c.6270+18del rs371141771
NM_025114.4(CEP290):c.6522+11_6522+12del rs11405846
NM_025114.4(CEP290):c.6522+11_6522+12dup rs11405846
NM_025114.4(CEP290):c.6522+12del rs11405846
NM_025114.4(CEP290):c.6522+5dup rs11405846
NM_025114.4(CEP290):c.6523-12dup rs1216267478
NM_025114.4(CEP290):c.6523-6del rs1216267478
NM_025114.4(CEP290):c.669+6del rs761225874
NM_025114.4(CEP290):c.670-3dup rs2039961279
NM_025114.4(CEP290):c.6819-15del rs1376803507
NM_025114.4(CEP290):c.6819-15dup rs1376803507
NM_025114.4(CEP290):c.7129+18dup rs2499425293
NM_025114.4(CEP290):c.7394_7395del (p.Glu2465fs) rs569673313
NM_025114.4(CEP290):c.942+11del rs558914208
NM_025114.4(CEP290):c.942+4dup rs558914208

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