ClinVar Miner

List of variants in gene GPHN, RDH12 studied for Leber congenital amaurosis 1

Included ClinVar conditions (8):
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Gene type:
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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_152443.3(RDH12):c.482G>A (p.Arg161Gln) rs17852293 0.12044
NM_152443.3(RDH12):c.85G>A (p.Gly29Arg) rs115455005 0.00054
NM_152443.3(RDH12):c.570C>T (p.Ser190=) rs79869437 0.00041
NM_152443.3(RDH12):c.301G>A (p.Asp101Asn) rs148334092 0.00037
NM_152443.3(RDH12):c.579C>T (p.Arg193=) rs142117351 0.00037
NM_152443.3(RDH12):c.317G>A (p.Arg106Gln) rs150812168 0.00017
NM_152443.3(RDH12):c.577C>T (p.Arg193Cys) rs148629905 0.00017
NM_152443.3(RDH12):c.384A>G (p.Val128=) rs139881477 0.00015
NM_152443.3(RDH12):c.300C>T (p.Ser100=) rs746513362 0.00012
NM_152443.3(RDH12):c.569G>A (p.Ser190Asn) rs371107041 0.00011
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.313A>G (p.Ile105Val) rs371493398 0.00005
NM_152443.3(RDH12):c.590G>T (p.Gly197Val) rs867284235 0.00005
NM_152443.3(RDH12):c.187+3A>G rs568731074 0.00004
NM_152443.3(RDH12):c.284G>A (p.Arg95Gln) rs765914942 0.00004
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile) rs28940315 0.00004
NM_152443.3(RDH12):c.320C>A (p.Ala107Asp) rs775717423 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.410C>G (p.Ala137Gly) rs779597637 0.00002
NM_152443.3(RDH12):c.481C>T (p.Arg161Trp) rs759408031 0.00002
NM_152443.3(RDH12):c.542G>A (p.Gly181Asp) rs374403088 0.00002
NM_152443.3(RDH12):c.621T>C (p.Asn207=) rs747183193 0.00002
NM_152443.3(RDH12):c.634C>T (p.Arg212Cys) rs146653515 0.00002
NM_152443.3(RDH12):c.165G>A (p.Thr55=) rs751674066 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.277C>T (p.Leu93=) rs143278615 0.00001
NM_152443.3(RDH12):c.302A>G (p.Asp101Gly) rs374675592 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.407C>T (p.Thr136Ile) rs1206574200 0.00001
NM_152443.3(RDH12):c.437T>A (p.Val146Asp) rs116649873 0.00001
NM_152443.3(RDH12):c.464C>T (p.Thr155Ile) rs121434337 0.00001
NM_152443.3(RDH12):c.465C>T (p.Thr155=) rs749242059 0.00001
NM_152443.3(RDH12):c.525G>A (p.Ser175=) rs756315539 0.00001
NM_152443.3(RDH12):c.578G>A (p.Arg193His) rs567973980 0.00001
NM_152443.3(RDH12):c.582C>G (p.Tyr194Ter) rs753074829 0.00001
NM_152443.3(RDH12):c.658+7C>T rs762391730 0.00001
NM_152443.3(RDH12):c.164C>T (p.Thr55Met) rs766631462
NM_152443.3(RDH12):c.185G>T (p.Arg62Leu) rs778481181
NM_152443.3(RDH12):c.187+5G>A rs2038164046
NM_152443.3(RDH12):c.188-1G>A rs2140142183
NM_152443.3(RDH12):c.189del (p.Ala64fs)
NM_152443.3(RDH12):c.226G>T (p.Gly76Trp) rs368489658
NM_152443.3(RDH12):c.26CCT[1] (p.Ser10del) rs754556714
NM_152443.3(RDH12):c.2T>C (p.Met1Thr)
NM_152443.3(RDH12):c.39G>A (p.Ser13=) rs146672918
NM_152443.3(RDH12):c.474C>G (p.Leu158=) rs755916691
NM_152443.3(RDH12):c.474C>T (p.Leu158=) rs755916691
NM_152443.3(RDH12):c.505C>T (p.Arg169Trp) rs761167763
NM_152443.3(RDH12):c.540T>G (p.Ile180Met) rs778933833
NM_152443.3(RDH12):c.552C>T (p.Pro184=) rs1453486367
NM_152443.3(RDH12):c.580dup (p.Tyr194fs) rs2140145502
NM_152443.3(RDH12):c.608G>C (p.Ser203Thr) rs1374822427
NM_152443.3(RDH12):c.609C>A (p.Ser203Arg) rs753959716
NM_152443.3(RDH12):c.634C>G (p.Arg212Gly) rs146653515
NM_152443.3(RDH12):c.641T>C (p.Leu214Pro) rs998898101
NM_152443.3(RDH12):c.68+1G>A rs2140138146

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