List of variants reported as uncertain significance for autosomal recessive disease by DBGen Ocular Genomics

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_022124.6(CDH23):c.6050-15G>A	rs373838930	0.00006
NM_015650.4(TRAF3IP1):c.88C>T (p.Pro30Ser)	rs1256966921	0.00004
NM_000329.3(RPE65):c.314C>T (p.Thr105Ile)	rs1260914084	0.00001
NM_000329.3(RPE65):c.143G>A (p.Gly48Glu)	rs2100831413
NM_000329.3(RPE65):c.332C>A (p.Pro111His)	rs2100828238
NM_014714.4(IFT140):c.2501G>C (p.Arg834Pro)	rs771116194
NM_014714.4(IFT140):c.2834T>C (p.Leu945Pro)	rs2141175065
NM_032119.4(ADGRV1):c.14363C>T (p.Thr4788Ile)	rs1194443703
NM_176824.3(BBS7):c.302T>A (p.Leu101His)	rs760863058

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