List of variants reported as likely pathogenic for Joubert syndrome 5

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)	rs137852832	0.00006
NM_025114.4(CEP290):c.6645+1G>A	rs201218801	0.00006
NM_025114.4(CEP290):c.1310del (p.Lys437fs)	rs2137917381
NM_025114.4(CEP290):c.1606C>T (p.Gln536Ter)	rs1465414886
NM_025114.4(CEP290):c.2279_2280del (p.Val759_Phe760insTer)	rs2137710225
NM_025114.4(CEP290):c.2594_2595del (p.Leu865fs)	rs1221464366
NM_025114.4(CEP290):c.3894dup (p.Lys1299Ter)	rs761907569
NM_025114.4(CEP290):c.4714G>A (p.Glu1572Lys)	rs1292516576
NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs)	rs1592833648
NM_025114.4(CEP290):c.5704G>T (p.Glu1902Ter)	rs267606719
NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter)	rs561598805
NM_025114.4(CEP290):c.6818_6818+1dup	rs1060499781
NM_025114.4(CEP290):c.7283_7286dup (p.Tyr2429Ter)	rs773642187

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