List of variants reported as pathogenic for chorioretinitis by OMIM

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=)	rs200092283	0.00034
NM_014444.5(TUBGCP4):c.579dup (p.Gly194fs)	rs794726855	0.00004
NM_014264.5(PLK4):c.1299_1303del (p.Phe433fs)	rs724159996	0.00003
NM_020461.4(TUBGCP6):c.2546A>G (p.Glu849Gly)	rs368449236	0.00003
NM_020461.4(TUBGCP6):c.2215C>T (p.Arg739Ter)	rs724159975	0.00001
NM_020461.4(TUBGCP6):c.5458T>G (p.Ter1820Gly)	rs387907019	0.00001
NG_042168.2:g.(35752_37583)_(39659_?)del
NM_014264.5(PLK4):c.2811-5C>G	rs724159995
NM_014444.5(TUBGCP4):c.298del (p.Tyr100fs)	rs794726856
NM_020461.4(TUBGCP6):c.3163C>T (p.His1055Tyr)	rs724159997
NM_020461.4(TUBGCP6):c.3565G>T (p.Gly1189Ter)	rs724159976
NM_020461.4(TUBGCP6):c.4333_4334insT (p.His1445fs)	rs727502807

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