List of variants reported as likely pathogenic for ciliopathy by Ocular Genomics Institute, Massachusetts Eye and Ear

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.4438-3del	rs747323414	0.00004
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter)	rs370119681	0.00004
NM_025114.4(CEP290):c.1523-412C>T	rs1381940328	0.00003
NM_025114.4(CEP290):c.6277del (p.Val2093fs)	rs771454167	0.00002
NM_001378454.1(ALMS1):c.709G>T (p.Glu237Ter)	rs989080548	0.00001
NM_001023570.4(IQCB1):c.413T>G (p.Leu138Ter)	rs2108595322
NM_001378454.1(ALMS1):c.11638_11639del (p.Val3880fs)	rs2104189157
NM_001378454.1(ALMS1):c.5684C>G (p.Ser1895Cys)	rs2103787360
NM_001378615.1(CC2D2A):c.3195del (p.Gln1065fs)	rs2109070129
NM_025114.4(CEP290):c.6919_6920del (p.Glu2307fs)	rs1177923180

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