List of variants studied for CEP290-related ciliopathy by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.4805C>T (p.Thr1602Met)	rs369451049	0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)	rs137852832	0.00006
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter)	rs886042153	0.00003
NM_025114.4(CEP290):c.3708dup (p.Arg1237fs)	rs758991387	0.00002
NM_025114.4(CEP290):c.1645C>T (p.Arg549Ter)	rs760415289	0.00001
NM_025114.4(CEP290):c.3811C>T (p.Arg1271Ter)	rs1412133967	0.00001
NM_025114.4(CEP290):c.1711G>A (p.Gly571Arg)
NM_025114.4(CEP290):c.2390del (p.Lys797fs)	rs781670422
NM_025114.4(CEP290):c.2594T>C (p.Leu865Pro)
NM_025114.4(CEP290):c.6249dup (p.Lys2084Ter)
NM_025114.4(CEP290):c.64GAA[1] (p.Glu23del)	rs780211907

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