List of variants reported as pathogenic for Cone-rod dystrophy and hearing loss 2

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_007186.6(CEP250):c.5959C>T (p.Gln1987Ter)	rs200263031	0.00019
NM_007186.6(CEP250):c.4006C>T (p.Arg1336Ter)	rs774702094	0.00011
NM_007186.6(CEP250):c.3463C>T (p.Arg1155Ter)	rs749314857	0.00001
NM_007186.6(CEP250):c.361C>T (p.Arg121Ter)	rs1341298773	0.00001
NM_007186.6(CEP250):c.562C>T (p.Arg188Ter)	rs1369076411	0.00001
NM_007186.6(CEP250):c.1494_1503delinsCCT (p.Gln499fs)
NM_007186.6(CEP250):c.1510C>T (p.Gln504Ter)
NM_007186.6(CEP250):c.2155C>T (p.Arg719Ter)	rs1051944154
NM_007186.6(CEP250):c.2206C>T (p.Arg736Ter)
NM_007186.6(CEP250):c.2512del (p.Gln838fs)
NM_007186.6(CEP250):c.2908del (p.Gln970fs)
NM_007186.6(CEP250):c.3337A>T (p.Lys1113Ter)	rs1568820302
NM_007186.6(CEP250):c.4020+1G>A
NM_007186.6(CEP250):c.4027C>T (p.Arg1343Ter)	rs774612231
NM_007186.6(CEP250):c.4272_4273delinsT (p.Leu1425fs)	rs2064043746
NM_007186.6(CEP250):c.5171del (p.Leu1724fs)
NM_007186.6(CEP250):c.547del (p.Glu183fs)
NM_007186.6(CEP250):c.5579_5580dup (p.Leu1861fs)

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