List of variants reported as likely pathogenic for blindness (disorder) by Sharon lab, Hadassah-Hebrew University Medical Center

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001298.3(CNGA3):c.1618G>A (p.Val540Ile)	rs116448158	0.00113
NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys)	rs147415641	0.00049
NM_001298.3(CNGA3):c.811C>G (p.Pro271Ala)	rs149802213	0.00022
NM_001298.3(CNGA3):c.848G>A (p.Arg283Gln)	rs104893614	0.00010
NM_019098.5(CNGB3):c.467C>T (p.Ser156Phe)	rs139207764	0.00005
NM_001298.3(CNGA3):c.1306C>T (p.Arg436Trp)	rs104893621	0.00003
NM_001298.3(CNGA3):c.1642G>A (p.Gly548Arg)	rs781227859	0.00002
NM_001252024.2(TRPM1):c.1263G>A (p.Pro421=)	rs768701595	0.00001
NM_019098.5(CNGB3):c.782A>G (p.Asp261Gly)	rs1233466909	0.00001
NM_001256789.3(CACNA1F):c.4261-9G>A	rs1602628429
NM_001256789.3(CACNA1F):c.4454G>A (p.Gly1485Glu)	rs1602627593
NM_001298.3(CNGA3):c.904A>G (p.Arg302Gly)	rs1574390600
NM_001378477.3(NYX):c.1003T>G (p.Cys335Gly)	rs1602181006
NM_001378477.3(NYX):c.335T>A (p.Leu112Gln)	rs1602180352
NM_001378477.3(NYX):c.481G>C (p.Ala161Pro)	rs1602180478
NM_006204.4(PDE6C):c.1595T>G (p.Ile532Arg)	rs766703340

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