List of variants in gene combination GPHN, RDH12, ZFYVE26 reported as pathogenic for Leber congenital amaurosis

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_152443.3(RDH12):c.701G>A (p.Arg234His)	rs750636662	0.00010
NM_152443.3(RDH12):c.698T>A (p.Val233Asp)	rs144148976	0.00003
NM_152443.3(RDH12):c.784del (p.Ala262fs)	rs1594867551
NM_152443.3(RDH12):c.806_810del (p.Ala269fs)	rs386834261
NM_152443.3(RDH12):c.848+2T>C	rs878853338

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