ClinVar Miner

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

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile) rs28940315 0.00004
NM_152443.3(RDH12):c.524C>T (p.Ser175Leu) rs116733939 0.00004
NM_152443.3(RDH12):c.139G>A (p.Ala47Thr) rs761231974 0.00003
NM_152443.3(RDH12):c.481C>T (p.Arg161Trp) rs759408031 0.00002
NM_152443.3(RDH12):c.133A>G (p.Thr45Ala) rs1225487694 0.00001
NM_152443.3(RDH12):c.193C>T (p.Arg65Ter) rs778571042 0.00001
NM_152443.3(RDH12):c.226G>C (p.Gly76Arg) rs368489658 0.00001
NM_152443.3(RDH12):c.407C>T (p.Thr136Ile) rs1206574200 0.00001
NM_152443.3(RDH12):c.506G>A (p.Arg169Gln) rs971610277 0.00001
NM_152443.3(RDH12):c.599A>G (p.Tyr200Cys) rs1163040913 0.00001
NM_152443.3(RDH12):c.619A>G (p.Asn207Asp) rs745871149 0.00001
NM_152443.3(RDH12):c.125T>C (p.Val42Ala) rs1594865036
NM_152443.3(RDH12):c.146C>A (p.Thr49Lys) rs28940314
NM_152443.3(RDH12):c.149G>A (p.Gly50Asp) rs1594865064
NM_152443.3(RDH12):c.152T>A (p.Ile51Asn) rs104894473
NM_152443.3(RDH12):c.157_187+178del rs1594865068
NM_152443.3(RDH12):c.164C>A (p.Thr55Lys)
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.185G>T (p.Arg62Leu) rs778481181
NM_152443.3(RDH12):c.187+1G>C
NM_152443.3(RDH12):c.188-1G>A rs2140142183
NM_152443.3(RDH12):c.188-2A>G
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) rs1032626668
NM_152443.3(RDH12):c.325G>C (p.Ala109Pro) rs1594865434
NM_152443.3(RDH12):c.377C>A (p.Ala126Glu) rs202126574
NM_152443.3(RDH12):c.449-1G>A rs2140145142
NM_152443.3(RDH12):c.449-2A>G rs2140145138
NM_152443.3(RDH12):c.488del (p.Lys163fs) rs2038193754
NM_152443.3(RDH12):c.505C>G (p.Arg169Gly) rs761167763
NM_152443.3(RDH12):c.51_52dup (p.Val18fs)
NM_152443.3(RDH12):c.559G>A (p.Asp187Asn)
NM_152443.3(RDH12):c.580dup (p.Tyr194fs) rs2140145502
NM_152443.3(RDH12):c.617C>A (p.Ala206Asp)
NM_152443.3(RDH12):c.617C>T (p.Ala206Val)
NM_152443.3(RDH12):c.63_66del (p.Ile22fs) rs794729650
NM_152443.3(RDH12):c.648_658+20del rs878853341
NM_152443.3(RDH12):c.69-1G>A rs373279009
NM_152443.3(RDH12):c.69del

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