List of variants in gene combination GPHN, RDH12 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)
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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_152443.3(RDH12):c.278T>C (p.Leu93Pro)	rs527800020	0.00005
NM_152443.3(RDH12):c.524C>T (p.Ser175Leu)	rs116733939	0.00004
NM_152443.3(RDH12):c.481C>T (p.Arg161Trp)	rs759408031	0.00002
NM_152443.3(RDH12):c.188-1G>A	rs2140142183
NM_152443.3(RDH12):c.226G>T (p.Gly76Trp)	rs368489658
NM_152443.3(RDH12):c.505C>T (p.Arg169Trp)	rs761167763
NM_152443.3(RDH12):c.580dup (p.Tyr194fs)	rs2140145502
NM_152443.3(RDH12):c.617C>A (p.Ala206Asp)

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