List of variants reported as pathogenic for Joubert syndrome 5 by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.2991+1655A>G	rs281865192	0.00029
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)	rs137852834	0.00009
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter)	rs376493409	0.00007
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter)	rs749439750	0.00002
NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter)	rs780225183	0.00001
NM_025114.4(CEP290):c.6012-2A>G	rs555755221	0.00001
NM_025114.4(CEP290):c.1514_1515del (p.Glu505fs)	rs886043303
NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter)	rs1057518822
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter)	rs62640581
NM_025114.4(CEP290):c.4452_4455del (p.Lys1484fs)	rs780624853
NM_025114.4(CEP290):c.5493del (p.Ala1832fs)	rs386834158
NM_025114.4(CEP290):c.7027del (p.Val2343fs)	rs2033827549

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