List of variants reported as uncertain significance for Joubert syndrome with ocular defect by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln)	rs121434351	0.00003
NM_001134831.2(AHI1):c.2267G>T (p.Gly756Val)	rs372012542
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu)	rs794727174
NM_001134831.2(AHI1):c.2573T>C (p.Leu858Pro)	rs1583187059
NM_017777.4(MKS1):c.959-5C>A	rs765242131

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