ClinVar Miner

List of variants studied for Joubert syndrome 5

Included ClinVar conditions (4):
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Total variants: 60
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HGVS dbSNP
CEP290, 1-BP DEL, 4656A
NM_001009894.3(C12orf29):c.*807_*808CT[1] rs569673313
NM_025114.3(CEP290):c.103-1G>T rs863225188
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.1606C>T (p.Gln536Ter) rs1465414886
NM_025114.3(CEP290):c.1623+1G>A rs863225186
NM_025114.3(CEP290):c.164_167delCTCA (p.Thr55Serfs) rs758550675
NM_025114.3(CEP290):c.1666delA (p.Ile556Phefs) rs727503855
NM_025114.3(CEP290):c.1666dupA (p.Ile556Asnfs) rs727503855
NM_025114.3(CEP290):c.1670G>A (p.Arg557His) rs184018899
NM_025114.3(CEP290):c.1984C>T (p.Gln662Ter) rs386834152
NM_025114.3(CEP290):c.1991A>G (p.Asp664Gly) rs79705698
NM_025114.3(CEP290):c.2112delA (p.Val705Leufs) rs863225183
NM_025114.3(CEP290):c.21G>T (p.Trp7Cys) rs62635288
NM_025114.3(CEP290):c.2251C>T (p.Arg751Ter) rs753884599
NM_025114.3(CEP290):c.2317dup (p.Ser773Lysfs) rs1555218898
NM_025114.3(CEP290):c.2343T>C (p.Asn781=) rs748034744
NM_025114.3(CEP290):c.2551G>A (p.Val851Ile) rs764963626
NM_025114.3(CEP290):c.2980G>A (p.Glu994Lys) rs182369459
NM_025114.3(CEP290):c.2991+1655A>G rs281865192
NM_025114.3(CEP290):c.3175dupA (p.Ile1059Asnfs) rs62640570
NM_025114.3(CEP290):c.3176delT (p.Ile1059Lysfs) rs863225184
NM_025114.3(CEP290):c.3185delT (p.Leu1062Argfs) rs863225189
NM_025114.3(CEP290):c.3660G>T (p.Lys1220Asn) rs201982308
NM_025114.3(CEP290):c.384_387delTAGA (p.Asp128Glufs) rs386834157
NM_025114.3(CEP290):c.3904C>T (p.Gln1302Ter) rs587783016
NM_025114.3(CEP290):c.4159dup (p.Ser1387Lysfs) rs1555208870
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.4384delG (p.Glu1462Argfs) rs863225182
NM_025114.3(CEP290):c.4393C>T (p.Arg1465Ter) rs539400286
NM_025114.3(CEP290):c.4437+1G>A rs760915898
NM_025114.3(CEP290):c.4452_4455delAGAA (p.Lys1484Asnfs) rs780624853
NM_025114.3(CEP290):c.4522C>T (p.Arg1508Ter) rs749439750
NM_025114.3(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834
NM_025114.3(CEP290):c.4787_4790TAAA[1] (p.Lys1598Serfs)
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.4966_4967delGA (p.Glu1656Asnfs) rs756302731
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.5611_5614delCAAA (p.Gln1871Valfs) rs727503853
NM_025114.3(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832
NM_025114.3(CEP290):c.5704G>T (p.Glu1902Ter) rs267606719
NM_025114.3(CEP290):c.5776C>T (p.Arg1926Ter) rs561598805
NM_025114.3(CEP290):c.5932C>T (p.Arg1978Ter) rs371525247
NM_025114.3(CEP290):c.5998A>G (p.Ile2000Val) rs183071230
NM_025114.3(CEP290):c.6072C>A (p.Tyr2024Ter) rs779262951
NM_025114.3(CEP290):c.6277delG (p.Val2093Serfs) rs771454167
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.6645+1G>A rs201218801
NM_025114.3(CEP290):c.6939C>A (p.Tyr2313Ter) rs863225187
NM_025114.3(CEP290):c.963T>A (p.Asp321Glu) rs774072453
NM_025114.4(CEP290):c.6818_6818+1dup rs1060499781
NM_025114.4(CEP290):c.732_733AG[1] (p.Glu245fs)

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