ClinVar Miner

List of variants in gene CEP290 studied for Meckel syndrome, type 4

Included ClinVar conditions (3):
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Total variants: 39
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HGVS dbSNP
CEP290, 1-BP DEL, 5489A
CEP290, 4-BP DEL, 384TAGA
CEP290, EX3, T-A, +2
NM_025114.3(CEP290):c.1066-1G>A rs965522059
NM_025114.3(CEP290):c.1078C>T (p.Arg360Ter) rs776645403
NM_025114.3(CEP290):c.1219_1220delAT (p.Met407Glufs) rs386834148
NM_025114.3(CEP290):c.1429C>T (p.Arg477Ter) rs1170451277
NM_025114.3(CEP290):c.1451delA (p.Lys484Argfs) rs386834149
NM_025114.3(CEP290):c.1670G>A (p.Arg557His) rs184018899
NM_025114.3(CEP290):c.180+2T>A rs386834150
NM_025114.3(CEP290):c.1860_1861delAA (p.Asp622Phefs) rs386834151
NM_025114.3(CEP290):c.1984C>T (p.Gln662Ter) rs386834152
NM_025114.3(CEP290):c.2551G>A (p.Val851Ile) rs764963626
NM_025114.3(CEP290):c.289G>T (p.Glu97Ter) rs386834153
NM_025114.3(CEP290):c.2991+1655A>G rs281865192
NM_025114.3(CEP290):c.3175delA (p.Ile1059Terfs) rs62640570
NM_025114.3(CEP290):c.3446_3447delAA (p.Lys1149Serfs) rs386834155
NM_025114.3(CEP290):c.3660G>T (p.Lys1220Asn) rs201982308
NM_025114.3(CEP290):c.381_382delAGinsT (p.Lys127Asnfs) rs386834156
NM_025114.3(CEP290):c.384_387delTAGA (p.Asp128Glufs) rs386834157
NM_025114.3(CEP290):c.4243G>T (p.Glu1415Ter) rs797044604
NM_025114.3(CEP290):c.4250A>G (p.Gln1417Arg) rs201504946
NM_025114.3(CEP290):c.4393C>T (p.Arg1465Ter) rs539400286
NM_025114.3(CEP290):c.4437+1G>A rs760915898
NM_025114.3(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834
NM_025114.3(CEP290):c.4882C>T (p.Gln1628Ter) rs376493409
NM_025114.3(CEP290):c.4938A>G (p.Lys1646=) rs371582975
NM_025114.3(CEP290):c.5284C>T (p.Arg1762Cys) rs373307908
NM_025114.3(CEP290):c.5344C>T (p.Arg1782Ter) rs575767207
NM_025114.3(CEP290):c.5493delA (p.Ala1832Profs) rs386834158
NM_025114.3(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832
NM_025114.3(CEP290):c.5745dup (p.Lys1916Terfs) rs751361090
NM_025114.3(CEP290):c.5850delT (p.Phe1950Leufs) rs386834159
NM_025114.3(CEP290):c.5998A>G (p.Ile2000Val) rs183071230
NM_025114.3(CEP290):c.613C>T (p.Arg205Ter) rs137852835
NM_025114.3(CEP290):c.6392A>G (p.Glu2131Gly) rs184323010
NM_025114.3(CEP290):c.654T>G (p.Tyr218Ter) rs863225185
NM_025114.3(CEP290):c.6629G>A (p.Arg2210His) rs371833544
NM_025114.3(CEP290):c.963T>A (p.Asp321Glu) rs774072453

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