ClinVar Miner

List of variants in gene CEP290, LOC129390514 studied for bone disorder

Included ClinVar conditions (1436):
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Gene type:
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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.6357+20A>T rs7971699 0.05185
NM_025114.4(CEP290):c.6320A>G (p.Lys2107Arg) rs755933899 0.00008
NM_025114.4(CEP290):c.6271-15C>T rs764251517 0.00004
NM_025114.4(CEP290):c.6283G>T (p.Asp2095Tyr) rs778771117 0.00003
NM_025114.4(CEP290):c.6277del (p.Val2093fs) rs771454167 0.00002
NM_025114.4(CEP290):c.6335G>A (p.Arg2112Gln) rs773459272 0.00002
NM_025114.4(CEP290):c.6271-8T>C rs1039146791 0.00001
NM_025114.4(CEP290):c.6299G>A (p.Cys2100Tyr) rs1274778299 0.00001
NM_025114.4(CEP290):c.6327A>G (p.Glu2109=) rs184095604 0.00001
NM_025114.4(CEP290):c.6346C>T (p.His2116Tyr) rs2034573032 0.00001
NM_025114.4(CEP290):c.6353G>C (p.Arg2118Thr) rs1208196086 0.00001
NM_025114.4(CEP290):c.6357+3A>G rs777062671 0.00001
NM_025114.4(CEP290):c.6357+9_6357+14del rs1295355611 0.00001
NM_025114.4(CEP290):c.6271-11T>C rs2499597871
NM_025114.4(CEP290):c.6271-12_6271-10del
NM_025114.4(CEP290):c.6271-13T>G rs2499597896
NM_025114.4(CEP290):c.6271-14T>G
NM_025114.4(CEP290):c.6271-16G>A rs2499597977
NM_025114.4(CEP290):c.6271-1G>A rs2034579709
NM_025114.4(CEP290):c.6271-6_6274del rs2034579427
NM_025114.4(CEP290):c.6271-8T>G rs1039146791
NM_025114.4(CEP290):c.6271-9A>T rs1259051617
NM_025114.4(CEP290):c.6277G>A (p.Val2093Ile) rs2034578914
NM_025114.4(CEP290):c.6291G>A (p.Lys2097=) rs2136785499
NM_025114.4(CEP290):c.6294A>G (p.Glu2098=) rs1213494233
NM_025114.4(CEP290):c.6297G>T (p.Met2099Ile) rs753507165
NM_025114.4(CEP290):c.6311A>C (p.Lys2104Thr) rs763959276
NM_025114.4(CEP290):c.6312_6314del (p.Lys2105del) rs749826807
NM_025114.4(CEP290):c.6324A>G (p.Ala2108=) rs751804638
NM_025114.4(CEP290):c.6336G>A (p.Arg2112=) rs1475220538
NM_025114.4(CEP290):c.6347A>G (p.His2116Arg) rs2499595409
NM_025114.4(CEP290):c.6348T>C (p.His2116=) rs2499595370
NM_025114.4(CEP290):c.6351T>C (p.Val2117=) rs2136784239
NM_025114.4(CEP290):c.6354A>G (p.Arg2118=) rs762397066
NM_025114.4(CEP290):c.6354A>T (p.Arg2118Ser) rs762397066
NM_025114.4(CEP290):c.6357+11A>C rs1214060253
NM_025114.4(CEP290):c.6357+16C>T rs2499594427
NM_025114.4(CEP290):c.6357+17C>T rs747413727
NM_025114.4(CEP290):c.6357+1G>A rs1196938557
NM_025114.4(CEP290):c.6357+20A>G rs7971699

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