ClinVar Miner

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

Included ClinVar conditions (2):
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Gene type:
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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_152443.3(RDH12):c.184C>T (p.Arg62Ter) rs104894471 0.00007
NM_152443.3(RDH12):c.278T>C (p.Leu93Pro) rs527800020 0.00005
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.146C>T (p.Thr49Met) rs28940314 0.00003
NM_152443.3(RDH12):c.250C>T (p.Arg84Ter) rs1349849938 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.210dup (p.Arg71fs) rs797044761 0.00001
NM_152443.3(RDH12):c.226G>C (p.Gly76Arg) rs368489658 0.00001
NM_152443.3(RDH12):c.316C>T (p.Arg106Ter) rs752242512 0.00001
NM_152443.3(RDH12):c.377C>T (p.Ala126Val) rs202126574 0.00001
NM_152443.3(RDH12):c.437T>A (p.Val146Asp) rs116649873 0.00001
NM_152443.3(RDH12):c.446T>C (p.Leu149Pro) rs747257567 0.00001
NM_152443.3(RDH12):c.451C>G (p.His151Asp) rs104894475 0.00001
NM_152443.3(RDH12):c.464C>T (p.Thr155Ile) rs121434337 0.00001
NM_152443.3(RDH12):c.506G>A (p.Arg169Gln) rs971610277 0.00001
NM_152443.3(RDH12):c.582C>G (p.Tyr194Ter) rs753074829 0.00001
NM_152443.3(RDH12):c.619A>G (p.Asn207Asp) rs745871149 0.00001
NM_152443.3(RDH12):c.106C>T (p.Gln36Ter)
NM_152443.3(RDH12):c.146C>A (p.Thr49Lys) rs28940314
NM_152443.3(RDH12):c.152T>A (p.Ile51Asn) rs104894473
NM_152443.3(RDH12):c.164C>T (p.Thr55Met) rs766631462
NM_152443.3(RDH12):c.178G>A (p.Ala60Thr)
NM_152443.3(RDH12):c.189del (p.Ala64fs)
NM_152443.3(RDH12):c.216_219del (p.Asp72_Val73insTer)
NM_152443.3(RDH12):c.226G>A (p.Gly76Arg) rs368489658
NM_152443.3(RDH12):c.226G>T (p.Gly76Trp) rs368489658
NM_152443.3(RDH12):c.229G>T (p.Glu77Ter)
NM_152443.3(RDH12):c.272dup (p.Val92fs)
NM_152443.3(RDH12):c.314_318del (p.Ile105fs)
NM_152443.3(RDH12):c.343+1G>A
NM_152443.3(RDH12):c.344-43_421del
NM_152443.3(RDH12):c.377C>A (p.Ala126Glu) rs202126574
NM_152443.3(RDH12):c.379G>T (p.Gly127Ter) rs104894474
NM_152443.3(RDH12):c.38C>A (p.Ser13Ter) rs912107188
NM_152443.3(RDH12):c.393T>A (p.Cys131Ter) rs755621140
NM_152443.3(RDH12):c.429_432delinsGGT (p.His143fs) rs2038182629
NM_152443.3(RDH12):c.43del (p.Leu15fs) rs1167979935
NM_152443.3(RDH12):c.448+1G>A rs781331005
NM_152443.3(RDH12):c.448+1G>C rs781331005
NM_152443.3(RDH12):c.451C>A (p.His151Asn) rs104894475
NM_152443.3(RDH12):c.488del (p.Lys163fs) rs2038193754
NM_152443.3(RDH12):c.496del (p.Ala166fs) rs2140145266
NM_152443.3(RDH12):c.505C>G (p.Arg169Gly) rs761167763
NM_152443.3(RDH12):c.505C>T (p.Arg169Trp) rs761167763
NM_152443.3(RDH12):c.523T>C (p.Ser175Pro) rs104894472
NM_152443.3(RDH12):c.524C>A (p.Ser175Ter) rs116733939
NM_152443.3(RDH12):c.52del (p.Met17_Val18insTer) rs2140138107
NM_152443.3(RDH12):c.535C>G (p.His179Asp) rs2038195054
NM_152443.3(RDH12):c.546del (p.Ile183fs)
NM_152443.3(RDH12):c.565C>T (p.Gln189Ter) rs104894470
NM_152443.3(RDH12):c.580dup (p.Tyr194fs) rs2140145502
NM_152443.3(RDH12):c.601T>C (p.Cys201Arg) rs2038196341
NM_152443.3(RDH12):c.609C>A (p.Ser203Arg) rs753959716
NM_152443.3(RDH12):c.616G>A (p.Ala206Thr) rs2140145599
NM_152443.3(RDH12):c.617C>T (p.Ala206Val)
NM_152443.3(RDH12):c.63_66del (p.Ile22fs) rs794729650
NM_152443.3(RDH12):c.658+1G>A rs387906272
NM_152443.3(RDH12):c.68+1G>A rs2140138146
NM_152443.3(RDH12):c.98del (p.Thr33fs)

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