ClinVar Miner

List of variants reported as likely pathogenic for Joubert syndrome 1

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Total variants: 11
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HGVS dbSNP
NC_000004.11:g.15589466_15589468delGAA rs794729225
NM_001134831.2(AHI1):c.1205del (p.Pro402fs) rs794729195
NM_001134831.2(AHI1):c.1779G>T (p.Gln593His) rs1583276758
NM_001134831.2(AHI1):c.1829G>C (p.Arg610Pro) rs374009466
NM_019892.6(INPP5E):c.1388C>T (p.Ala463Val) rs199956627
NM_019892.6(INPP5E):c.1897C>T (p.Gln633Ter)
NM_023073.3(CPLANE1):c.3104G>C (p.Gly1035Ala) rs1019442092
NM_023073.3(CPLANE1):c.8855+1G>A rs863225154
NM_025114.4(CEP290):c.14T>C (p.Ile5Thr) rs1434632102
NM_025114.4(CEP290):c.4704G>C (p.Glu1568Asp) rs1592836704
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro) rs778030031

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