List of variants reported as likely pathogenic for Joubert syndrome 1 by Mendelics

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001384732.1(CPLANE1):c.3104G>C (p.Gly1035Ala)	rs1019442092	0.00001
NM_001384732.1(CPLANE1):c.9017+1G>A	rs863225154	0.00001
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_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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