ClinVar Miner

List of variants reported as likely pathogenic for Leber congenital amaurosis 13

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Total variants: 31
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HGVS dbSNP
NC_000014.8:g.(?_68191277_68191485del
NC_000014.8:g.(?_68195898)_(68200575_?)del
NM_152443.3(RDH12):c.125T>C (p.Val42Ala) rs1594865036
NM_152443.3(RDH12):c.139G>A (p.Ala47Thr)
NM_152443.3(RDH12):c.149G>A (p.Gly50Asp) rs1594865064
NM_152443.3(RDH12):c.157_187+178del rs1594865068
NM_152443.3(RDH12):c.164C>T (p.Thr55Met) rs766631462
NM_152443.3(RDH12):c.178G>C (p.Ala60Pro) rs749038454
NM_152443.3(RDH12):c.188-1G>A
NM_152443.3(RDH12):c.193C>T (p.Arg65Ter)
NM_152443.3(RDH12):c.215A>G (p.Asp72Gly) rs1594865341
NM_152443.3(RDH12):c.226G>T (p.Gly76Trp) rs368489658
NM_152443.3(RDH12):c.238G>C (p.Ala80Pro)
NM_152443.3(RDH12):c.278T>C (p.Leu93Pro)
NM_152443.3(RDH12):c.325G>C (p.Ala109Pro) rs1594865434
NM_152443.3(RDH12):c.377C>A (p.Ala126Glu)
NM_152443.3(RDH12):c.448+1G>C
NM_152443.3(RDH12):c.481C>T (p.Arg161Trp) rs759408031
NM_152443.3(RDH12):c.506G>A (p.Arg169Gln) rs971610277
NM_152443.3(RDH12):c.524C>T (p.Ser175Leu) rs116733939
NM_152443.3(RDH12):c.599A>G (p.Tyr200Cys)
NM_152443.3(RDH12):c.619A>G (p.Asn207Asp) rs745871149
NM_152443.3(RDH12):c.63_66del (p.Ile22fs) rs794729650
NM_152443.3(RDH12):c.648_658+20del rs878853341
NM_152443.3(RDH12):c.677A>G (p.Tyr226Cys) rs28940313
NM_152443.3(RDH12):c.716G>A (p.Arg239Gln)
NM_152443.3(RDH12):c.716G>T (p.Arg239Leu) rs1239043055
NM_152443.3(RDH12):c.805G>C (p.Ala269Pro)
NM_152443.3(RDH12):c.883C>T (p.Arg295Ter) rs200387832
NM_152443.3(RDH12):c.912G>A (p.Trp304Ter)
NM_152443.3(RDH12):c.932T>C (p.Leu311Pro)

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