List of variants in gene combination GPHN, RDH12, ZFYVE26 reported as likely 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)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_152443.3(RDH12):c.806C>G (p.Ala269Gly)	rs116802390	0.00007
NM_152443.3(RDH12):c.667G>T (p.Val223Phe)	rs370015375
NM_152443.3(RDH12):c.716G>T (p.Arg239Leu)	rs1239043055
NM_152443.3(RDH12):c.912G>A (p.Trp304Ter)	rs2038317129

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