ClinVar Miner

List of variants in gene GPHN, RDH12, ZFYVE26 studied for Leber congenital amaurosis

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Total variants: 24
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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.806C>G (p.Ala269Gly) rs116802390 0.00007
NM_152443.3(RDH12):c.755C>A (p.Ser252Tyr) rs376787473 0.00004
NM_152443.3(RDH12):c.698T>A (p.Val233Asp) rs144148976 0.00003
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.667G>T (p.Val223Phe) rs370015375
NM_152443.3(RDH12):c.716G>T (p.Arg239Leu) rs1239043055
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.784del (p.Ala262fs) rs1594867551
NM_152443.3(RDH12):c.806_810del (p.Ala269fs) rs386834261
NM_152443.3(RDH12):c.848+2T>C rs878853338
NM_152443.3(RDH12):c.878G>T (p.Arg293Met) rs746131696
NM_152443.3(RDH12):c.910T>C (p.Trp304Arg) rs878853339
NM_152443.3(RDH12):c.912G>A (p.Trp304Ter) rs2038317129
NM_152443.3(RDH12):c.931C>T (p.Leu311=) rs201458213

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