List of variants in gene combination GPHN, RDH12, ZFYVE26 reported as uncertain significance 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: 15

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HGVS	dbSNP	gnomAD frequency
NM_152443.3(RDH12):c.869T>G (p.Val290Gly)	rs61740289	0.00029
NM_152443.3(RDH12):c.662C>T (p.Thr221Ile)	rs769317754	0.00014
NM_152443.3(RDH12):c.701G>A (p.Arg234His)	rs750636662	0.00010
NM_152443.3(RDH12):c.755C>A (p.Ser252Tyr)	rs376787473	0.00004
NM_152443.3(RDH12):c.878G>C (p.Arg293Thr)	rs746131696	0.00003
NM_152443.3(RDH12):c.709C>G (p.Leu237Val)	rs1377743038	0.00001
NM_152443.3(RDH12):c.748C>T (p.Leu250Phe)	rs777424197	0.00001
NM_152443.3(RDH12):c.940C>T (p.Arg314Trp)	rs773048895	0.00001
NM_152443.3(RDH12):c.*1C>G	rs2038317945
NM_152443.3(RDH12):c.739C>T (p.Leu247Phe)	rs1185491186
NM_152443.3(RDH12):c.758C>G (p.Pro253Arg)	rs770465995
NM_152443.3(RDH12):c.758C>T (p.Pro253Leu)	rs770465995
NM_152443.3(RDH12):c.771G>A (p.Thr257=)	rs1035808739
NM_152443.3(RDH12):c.878G>T (p.Arg293Met)	rs746131696
NM_152443.3(RDH12):c.910T>C (p.Trp304Arg)	rs878853339

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