ClinVar Miner

List of variants in gene combination GPHN, RDH12, ZFYVE26 reported as pathogenic for Leber congenital amaurosis 13

Included ClinVar conditions (2):
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Total variants: 33
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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.701G>A (p.Arg234His) rs750636662 0.00010
NM_152443.3(RDH12):c.697G>C (p.Val233Leu) rs140257538 0.00003
NM_152443.3(RDH12):c.677A>G (p.Tyr226Cys) rs28940313 0.00001
NM_152443.3(RDH12):c.659-2A>T rs2038231425
NM_152443.3(RDH12):c.680_683del (p.Ala227fs) rs2038232008
NM_152443.3(RDH12):c.688C>G (p.Pro230Ala) rs104894476
NM_152443.3(RDH12):c.697_698dup (p.Arg234fs)
NM_152443.3(RDH12):c.698_699delinsAA (p.Val233Glu) rs2038232911
NM_152443.3(RDH12):c.715C>T (p.Arg239Trp) rs751589863
NM_152443.3(RDH12):c.715dup (p.Arg239fs) rs760813820
NM_152443.3(RDH12):c.716G>T (p.Arg239Leu) rs1239043055
NM_152443.3(RDH12):c.723del (p.Ser242fs)
NM_152443.3(RDH12):c.759del (p.Phe254fs) rs1594867516
NM_152443.3(RDH12):c.759dup (p.Phe254fs) rs1594867516
NM_152443.3(RDH12):c.778del (p.Glu260fs) rs527236099
NM_152443.3(RDH12):c.779dup (p.Ala262fs)
NM_152443.3(RDH12):c.784del (p.Ala262fs) rs1594867551
NM_152443.3(RDH12):c.784dup (p.Ala262fs) rs1594867551
NM_152443.3(RDH12):c.796del (p.Leu266fs)
NM_152443.3(RDH12):c.806_810del (p.Ala269fs) rs386834261
NM_152443.3(RDH12):c.807_813del (p.Leu270fs)
NM_152443.3(RDH12):c.812_813del (p.Ala271fs) rs2140151036
NM_152443.3(RDH12):c.823G>T (p.Glu275Ter) rs755909719
NM_152443.3(RDH12):c.829_830del (p.Leu277fs)
NM_152443.3(RDH12):c.843C>G (p.Tyr281Ter)
NM_152443.3(RDH12):c.848+1G>C
NM_152443.3(RDH12):c.848+2T>C rs878853338
NM_152443.3(RDH12):c.866G>A (p.Trp289Ter) rs2140162488
NM_152443.3(RDH12):c.867_884del (p.Trp289_Arg295delinsTer)
NM_152443.3(RDH12):c.869dup (p.Ser291fs) rs2038316193
NM_152443.3(RDH12):c.883C>T (p.Arg295Ter) rs200387832
NM_152443.3(RDH12):c.910T>C (p.Trp304Arg) rs878853339

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