List of variants reported as likely pathogenic for Joubert syndrome by 3billion

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_006346.4(PIBF1):c.1508A>G (p.Tyr503Cys)	rs144610914	0.00002
NM_001384732.1(CPLANE1):c.1828C>T (p.Gln610Ter)	rs1200574734	0.00001
NM_001382391.1(CSPP1):c.1187+1G>A
NM_001384732.1(CPLANE1):c.6286C>T (p.Gln2096Ter)	rs2150954061
NM_001384732.1(CPLANE1):c.9441dup (p.His3148fs)	rs1579740974
NM_003611.3(OFD1):c.538GAT[1] (p.Asp181del)	rs1131691889
NM_006346.4(PIBF1):c.597_598insAAGAAAGGAATCCATTAAGAAAG (p.Glu200delinsLysLysGlyIleHisTer)	rs2137980593
NM_017777.4(MKS1):c.1483C>T (p.Gln495Ter)	rs2143737457

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