List of variants in gene combination GPHN, RDH12 reported as likely benign 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.579C>T (p.Arg193=)	rs142117351	0.00037
NM_152443.3(RDH12):c.384A>G (p.Val128=)	rs139881477	0.00015
NM_152443.3(RDH12):c.320C>A (p.Ala107Asp)	rs775717423	0.00004
NM_152443.3(RDH12):c.621T>C (p.Asn207=)	rs747183193	0.00002
NM_152443.3(RDH12):c.39G>A (p.Ser13=)	rs146672918
NM_152443.3(RDH12):c.474C>G (p.Leu158=)	rs755916691
NM_152443.3(RDH12):c.474C>T (p.Leu158=)	rs755916691
NM_152443.3(RDH12):c.552C>T (p.Pro184=)	rs1453486367

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