List of variants reported as uncertain significance for Joubert syndrome with oculorenal defect by Baylor Genetics

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001378615.1(CC2D2A):c.3046G>A (p.Glu1016Lys)	rs373960465	0.00053
NM_001378615.1(CC2D2A):c.4852C>T (p.Arg1618Cys)	rs201219078	0.00023
NM_001379286.1(ZNF423):c.317C>G (p.Pro106Arg)	rs113358702	0.00022
NM_001378615.1(CC2D2A):c.2039G>A (p.Arg680His)	rs200236654	0.00021
NM_001044385.3(TMEM237):c.287C>T (p.Ser96Phe)	rs376578633	0.00020
NM_001379286.1(ZNF423):c.2984C>T (p.Thr995Met)	rs143393771	0.00011
NM_001378615.1(CC2D2A):c.1837G>A (p.Glu613Lys)	rs201439617	0.00010
NM_025114.4(CEP290):c.6752C>G (p.Ala2251Gly)	rs758864226	0.00003

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