ClinVar Miner

List of variants in gene GPHN, RDH12 studied for Leber congenital amaurosis 13

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 346
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HGVS dbSNP gnomAD frequency
NM_152443.3(RDH12):c.344-115G>C rs7156725 0.93203
NM_152443.3(RDH12):c.187+60G>A rs61991867 0.54260
NM_152443.3(RDH12):c.482G>A (p.Arg161Gln) rs17852293 0.12044
NM_152443.3(RDH12):c.264G>A (p.Lys88=) rs149522949 0.00092
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.195A>C (p.Arg65=) rs771614823 0.00019
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.344-7C>T rs369409245 0.00011
NM_152443.3(RDH12):c.569G>A (p.Ser190Asn) rs371107041 0.00011
NM_152443.3(RDH12):c.68+6T>C rs757501261 0.00009
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.590G>T (p.Gly197Val) rs867284235 0.00005
NM_152443.3(RDH12):c.630T>C (p.Phe210=) rs771268615 0.00005
NM_152443.3(RDH12):c.138C>T (p.Gly46=) rs140371232 0.00004
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.344-4A>G rs768655343 0.00004
NM_152443.3(RDH12):c.344-8C>T rs552400272 0.00004
NM_152443.3(RDH12):c.517G>A (p.Val173Met) rs376053811 0.00004
NM_152443.3(RDH12):c.524C>T (p.Ser175Leu) rs116733939 0.00004
NM_152443.3(RDH12):c.558C>T (p.His186=) rs116465785 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.194G>A (p.Arg65Gln) rs745471670 0.00003
NM_152443.3(RDH12):c.250C>T (p.Arg84Ter) rs1349849938 0.00003
NM_152443.3(RDH12):c.202A>G (p.Ile68Val) rs748754343 0.00002
NM_152443.3(RDH12):c.240C>T (p.Ala80=) rs771381285 0.00002
NM_152443.3(RDH12):c.241A>T (p.Ser81Cys) rs760092398 0.00002
NM_152443.3(RDH12):c.321C>A (p.Ala107=) rs1296699520 0.00002
NM_152443.3(RDH12):c.410C>G (p.Ala137Gly) rs779597637 0.00002
NM_152443.3(RDH12):c.456C>T (p.Phe152=) rs1191351202 0.00002
NM_152443.3(RDH12):c.481C>T (p.Arg161Trp) rs759408031 0.00002
NM_152443.3(RDH12):c.530C>T (p.Ala177Val) rs373032226 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.69-6C>T rs369709080 0.00002
NM_152443.3(RDH12):c.108G>C (p.Gln36His) rs950626394 0.00001
NM_152443.3(RDH12):c.133A>G (p.Thr45Ala) rs1225487694 0.00001
NM_152443.3(RDH12):c.165G>A (p.Thr55=) rs751674066 0.00001
NM_152443.3(RDH12):c.177C>T (p.Leu59=) rs777401977 0.00001
NM_152443.3(RDH12):c.188-9T>C rs1030267494 0.00001
NM_152443.3(RDH12):c.193C>T (p.Arg65Ter) rs778571042 0.00001
NM_152443.3(RDH12):c.199T>C (p.Tyr67His) rs1345040413 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.236C>T (p.Ala79Val) rs763414313 0.00001
NM_152443.3(RDH12):c.269C>T (p.Ser90Phe) rs763945956 0.00001
NM_152443.3(RDH12):c.277C>T (p.Leu93=) rs143278615 0.00001
NM_152443.3(RDH12):c.27C>A (p.Thr9=) rs1480470949 0.00001
NM_152443.3(RDH12):c.281T>C (p.Val94Ala) rs764990788 0.00001
NM_152443.3(RDH12):c.283C>T (p.Arg95Trp) rs552516182 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.354G>A (p.Gln118=) rs761794309 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.411T>C (p.Ala137=) rs1287195540 0.00001
NM_152443.3(RDH12):c.426C>T (p.Thr142=) rs953510866 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.448+14G>A rs1260581395 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.465C>T (p.Thr155=) rs749242059 0.00001
NM_152443.3(RDH12):c.491T>C (p.Val164Ala) rs760376777 0.00001
NM_152443.3(RDH12):c.506G>A (p.Arg169Gln) rs971610277 0.00001
NM_152443.3(RDH12):c.525G>A (p.Ser175=) rs756315539 0.00001
NM_152443.3(RDH12):c.534C>T (p.His178=) rs1160809813 0.00001
NM_152443.3(RDH12):c.560A>G (p.Asp187Gly) rs1262243990 0.00001
NM_152443.3(RDH12):c.576G>A (p.Lys192=) rs764600869 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.599A>G (p.Tyr200Cys) rs1163040913 0.00001
NM_152443.3(RDH12):c.619A>G (p.Asn207Asp) rs745871149 0.00001
NM_152443.3(RDH12):c.636T>C (p.Arg212=) rs372346477 0.00001
NM_152443.3(RDH12):c.658+7C>T rs762391730 0.00001
NM_152443.3(RDH12):c.658+8T>A rs1393037708 0.00001
NM_152443.3(RDH12):c.69-19T>C rs2038161735 0.00001
NM_152443.3(RDH12):c.81T>G (p.Ala27=) rs765504556 0.00001
NM_152443.3(RDH12):c.92G>A (p.Cys31Tyr) rs746979841 0.00001
NM_152443.3(RDH12):c.102T>C (p.Asn34=)
NM_152443.3(RDH12):c.103G>C (p.Val35Leu)
NM_152443.3(RDH12):c.106C>T (p.Gln36Ter)
NM_152443.3(RDH12):c.112C>T (p.Pro38Ser)
NM_152443.3(RDH12):c.114T>C (p.Pro38=)
NM_152443.3(RDH12):c.117C>A (p.Gly39=) rs1417655457
NM_152443.3(RDH12):c.123A>T (p.Val41=)
NM_152443.3(RDH12):c.125T>C (p.Val42Ala) rs1594865036
NM_152443.3(RDH12):c.126G>A (p.Val42=)
NM_152443.3(RDH12):c.135T>C (p.Thr45=)
NM_152443.3(RDH12):c.141C>A (p.Ala47=) rs2140141325
NM_152443.3(RDH12):c.141C>T (p.Ala47=)
NM_152443.3(RDH12):c.144C>T (p.Asn48=) rs777059854
NM_152443.3(RDH12):c.146C>A (p.Thr49Lys) rs28940314
NM_152443.3(RDH12):c.147G>A (p.Thr49=)
NM_152443.3(RDH12):c.147G>T (p.Thr49=) rs750704865
NM_152443.3(RDH12):c.148G>A (p.Gly50Ser) rs2140141345
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.15_29dup (p.Ser10_Phe11insGlyLeuLeuThrSer)
NM_152443.3(RDH12):c.164C>A (p.Thr55Lys)
NM_152443.3(RDH12):c.164C>T (p.Thr55Met) rs766631462
NM_152443.3(RDH12):c.165G>T (p.Thr55=) rs751674066
NM_152443.3(RDH12):c.168C>T (p.Ala56=)
NM_152443.3(RDH12):c.174G>A (p.Glu58=)
NM_152443.3(RDH12):c.175C>A (p.Leu59Ile)
NM_152443.3(RDH12):c.178G>A (p.Ala60Thr)
NM_152443.3(RDH12):c.178G>C (p.Ala60Pro) rs749038454
NM_152443.3(RDH12):c.184C>A (p.Arg62=)
NM_152443.3(RDH12):c.185G>A (p.Arg62Gln)
NM_152443.3(RDH12):c.185G>T (p.Arg62Leu) rs778481181
NM_152443.3(RDH12):c.187+10T>G
NM_152443.3(RDH12):c.187+12C>G
NM_152443.3(RDH12):c.187+16T>C
NM_152443.3(RDH12):c.187+1G>C
NM_152443.3(RDH12):c.187+20T>C
NM_152443.3(RDH12):c.187+3_187+8dup
NM_152443.3(RDH12):c.188-11C>T
NM_152443.3(RDH12):c.188-1G>A rs2140142183
NM_152443.3(RDH12):c.188-2A>G
NM_152443.3(RDH12):c.188-4C>A rs900384433
NM_152443.3(RDH12):c.188-5C>T
NM_152443.3(RDH12):c.188-7G>A
NM_152443.3(RDH12):c.188G>A (p.Gly63Glu)
NM_152443.3(RDH12):c.189del (p.Ala64fs)
NM_152443.3(RDH12):c.18A>G (p.Gly6=) rs2140138040
NM_152443.3(RDH12):c.191C>A (p.Ala64Asp)
NM_152443.3(RDH12):c.191C>T (p.Ala64Val)
NM_152443.3(RDH12):c.192C>T (p.Ala64=)
NM_152443.3(RDH12):c.195A>G (p.Arg65=) rs771614823
NM_152443.3(RDH12):c.19C>T (p.Leu7=)
NM_152443.3(RDH12):c.1A>G (p.Met1Val)
NM_152443.3(RDH12):c.201T>C (p.Tyr67=) rs1256943978
NM_152443.3(RDH12):c.203T>C (p.Ile68Thr) rs2038169727
NM_152443.3(RDH12):c.211A>C (p.Arg71=)
NM_152443.3(RDH12):c.212G>A (p.Arg71Lys)
NM_152443.3(RDH12):c.215A>G (p.Asp72Gly) rs1594865341
NM_152443.3(RDH12):c.216T>C (p.Asp72=) rs963233306
NM_152443.3(RDH12):c.216T>G (p.Asp72Glu) rs963233306
NM_152443.3(RDH12):c.216_219del (p.Asp72_Val73insTer)
NM_152443.3(RDH12):c.219A>G (p.Val73=)
NM_152443.3(RDH12):c.21G>A (p.Leu7=)
NM_152443.3(RDH12):c.224A>G (p.Lys75Arg)
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.227G>T (p.Gly76Val)
NM_152443.3(RDH12):c.229G>T (p.Glu77Ter)
NM_152443.3(RDH12):c.230A>G (p.Glu77Gly)
NM_152443.3(RDH12):c.231G>A (p.Glu77=) rs773709615
NM_152443.3(RDH12):c.231G>T (p.Glu77Asp)
NM_152443.3(RDH12):c.234T>G (p.Ser78=)
NM_152443.3(RDH12):c.235G>C (p.Ala79Pro)
NM_152443.3(RDH12):c.237T>G (p.Ala79=)
NM_152443.3(RDH12):c.238G>C (p.Ala80Pro) rs1032626668
NM_152443.3(RDH12):c.249C>T (p.Ile83=)
NM_152443.3(RDH12):c.24C>T (p.Leu8=)
NM_152443.3(RDH12):c.265A>C (p.Asn89His) rs927359411
NM_152443.3(RDH12):c.26C>A (p.Thr9Asn) rs1173475346
NM_152443.3(RDH12):c.26C>T (p.Thr9Ile)
NM_152443.3(RDH12):c.26CCT[1] (p.Ser10del) rs754556714
NM_152443.3(RDH12):c.272dup (p.Val92fs)
NM_152443.3(RDH12):c.273G>A (p.Gln91=)
NM_152443.3(RDH12):c.279G>A (p.Leu93=) rs2140142341
NM_152443.3(RDH12):c.283C>A (p.Arg95=) rs552516182
NM_152443.3(RDH12):c.289T>C (p.Leu97=) rs1267070599
NM_152443.3(RDH12):c.295C>T (p.Leu99=)
NM_152443.3(RDH12):c.302A>T (p.Asp101Val)
NM_152443.3(RDH12):c.303C>T (p.Asp101=) rs2140142389
NM_152443.3(RDH12):c.306C>T (p.Thr102=)
NM_152443.3(RDH12):c.30C>T (p.Ser10=) rs2140138063
NM_152443.3(RDH12):c.312T>C (p.Ser104=)
NM_152443.3(RDH12):c.314_318del (p.Ile105fs)
NM_152443.3(RDH12):c.315C>T (p.Ile105=)
NM_152443.3(RDH12):c.320C>G (p.Ala107Gly)
NM_152443.3(RDH12):c.325G>C (p.Ala109Pro) rs1594865434
NM_152443.3(RDH12):c.32T>C (p.Phe11Ser)
NM_152443.3(RDH12):c.32TCT[1] (p.Phe12del) rs1274797842
NM_152443.3(RDH12):c.333C>T (p.Gly111=)
NM_152443.3(RDH12):c.337C>T (p.Leu113=)
NM_152443.3(RDH12):c.340G>A (p.Ala114Thr) rs2038171993
NM_152443.3(RDH12):c.340G>T (p.Ala114Ser) rs2038171993
NM_152443.3(RDH12):c.343+10T>C rs2140142460
NM_152443.3(RDH12):c.343+11G>C rs761704115
NM_152443.3(RDH12):c.343+13T>C rs2140142478
NM_152443.3(RDH12):c.343+1G>A
NM_152443.3(RDH12):c.343+6G>T
NM_152443.3(RDH12):c.344-18T>C
NM_152443.3(RDH12):c.344-20T>G
NM_152443.3(RDH12):c.344-43_421del
NM_152443.3(RDH12):c.344-6C>A
NM_152443.3(RDH12):c.344-6C>T rs747236322
NM_152443.3(RDH12):c.344-8C>A
NM_152443.3(RDH12):c.344-9G>A rs746242098
NM_152443.3(RDH12):c.345G>C (p.Glu115Asp) rs2038181425
NM_152443.3(RDH12):c.359A>C (p.His120Pro)
NM_152443.3(RDH12):c.362T>C (p.Ile121Thr) rs1594865719
NM_152443.3(RDH12):c.364C>T (p.Leu122=)
NM_152443.3(RDH12):c.372C>T (p.Asn124=) rs1457758459
NM_152443.3(RDH12):c.375T>C (p.Asn125=) rs1594865727
NM_152443.3(RDH12):c.377C>A (p.Ala126Glu) rs202126574
NM_152443.3(RDH12):c.378G>A (p.Ala126=)
NM_152443.3(RDH12):c.379G>T (p.Gly127Ter) rs104894474
NM_152443.3(RDH12):c.380G>A (p.Gly127Glu) rs2140143704
NM_152443.3(RDH12):c.38C>A (p.Ser13Ter) rs912107188
NM_152443.3(RDH12):c.392G>T (p.Cys131Phe)
NM_152443.3(RDH12):c.393T>A (p.Cys131Ter) rs755621140
NM_152443.3(RDH12):c.396A>G (p.Pro132=)
NM_152443.3(RDH12):c.39G>A (p.Ser13=) rs146672918
NM_152443.3(RDH12):c.39G>C (p.Ser13=) rs146672918
NM_152443.3(RDH12):c.39G>T (p.Ser13=) rs146672918
NM_152443.3(RDH12):c.414T>C (p.Asp138=) rs2140143772
NM_152443.3(RDH12):c.417C>A (p.Gly139=)
NM_152443.3(RDH12):c.423A>G (p.Glu141=) rs2140143777
NM_152443.3(RDH12):c.429C>T (p.His143=)
NM_152443.3(RDH12):c.429_432delinsGGT (p.His143fs) rs2038182629
NM_152443.3(RDH12):c.42C>T (p.Phe14=) rs2140138091
NM_152443.3(RDH12):c.430C>T (p.Leu144=)
NM_152443.3(RDH12):c.43C>T (p.Leu15=)
NM_152443.3(RDH12):c.43del (p.Leu15fs) rs1167979935
NM_152443.3(RDH12):c.441C>T (p.Asn147=) rs2140143816
NM_152443.3(RDH12):c.444C>A (p.His148Gln)
NM_152443.3(RDH12):c.448+17G>A
NM_152443.3(RDH12):c.448+18A>T
NM_152443.3(RDH12):c.448+1G>A rs781331005
NM_152443.3(RDH12):c.448+1G>C rs781331005
NM_152443.3(RDH12):c.448+4A>G rs987481207
NM_152443.3(RDH12):c.448+4_448+7del
NM_152443.3(RDH12):c.448+8T>A
NM_152443.3(RDH12):c.449-11T>C
NM_152443.3(RDH12):c.449-1G>A rs2140145142
NM_152443.3(RDH12):c.449-2A>G rs2140145138
NM_152443.3(RDH12):c.449-4A>G
NM_152443.3(RDH12):c.449-7C>T
NM_152443.3(RDH12):c.449-8C>T rs1468950599
NM_152443.3(RDH12):c.44T>G (p.Leu15Arg)
NM_152443.3(RDH12):c.451C>A (p.His151Asn) rs104894475
NM_152443.3(RDH12):c.452A>G (p.His151Arg) rs1254990753
NM_152443.3(RDH12):c.453C>T (p.His151=) rs2140145160
NM_152443.3(RDH12):c.459C>T (p.Leu153=) rs1264849297
NM_152443.3(RDH12):c.468C>T (p.Tyr156=)
NM_152443.3(RDH12):c.471G>A (p.Leu157=)
NM_152443.3(RDH12):c.471G>C (p.Leu157=)
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.488del (p.Lys163fs) rs2038193754
NM_152443.3(RDH12):c.490G>A (p.Val164Met)
NM_152443.3(RDH12):c.496del (p.Ala166fs) rs2140145266
NM_152443.3(RDH12):c.498C>A (p.Ala166=) rs1244771115
NM_152443.3(RDH12):c.499C>T (p.Pro167Ser)
NM_152443.3(RDH12):c.500C>T (p.Pro167Leu)
NM_152443.3(RDH12):c.501T>C (p.Pro167=) rs199835155
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.507G>A (p.Arg169=) rs749207060
NM_152443.3(RDH12):c.507G>C (p.Arg169=) rs749207060
NM_152443.3(RDH12):c.51_52dup (p.Val18fs)
NM_152443.3(RDH12):c.521C>T (p.Ser174Phe) rs1388761778
NM_152443.3(RDH12):c.522C>A (p.Ser174=) rs370741042
NM_152443.3(RDH12):c.522C>T (p.Ser174=) rs370741042
NM_152443.3(RDH12):c.523T>C (p.Ser175Pro) rs104894472
NM_152443.3(RDH12):c.523T>G (p.Ser175Ala)
NM_152443.3(RDH12):c.524C>A (p.Ser175Ter) rs116733939
NM_152443.3(RDH12):c.529G>C (p.Ala177Pro) rs2140145365
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.536A>T (p.His179Leu)
NM_152443.3(RDH12):c.537C>T (p.His179=)
NM_152443.3(RDH12):c.546del (p.Ile183fs)
NM_152443.3(RDH12):c.552C>T (p.Pro184=) rs1453486367
NM_152443.3(RDH12):c.559G>A (p.Asp187Asn)
NM_152443.3(RDH12):c.564C>T (p.Leu188=)
NM_152443.3(RDH12):c.565C>T (p.Gln189Ter) rs104894470
NM_152443.3(RDH12):c.567G>A (p.Gln189=) rs2140145459
NM_152443.3(RDH12):c.56C>T (p.Ala19Val)
NM_152443.3(RDH12):c.571G>A (p.Glu191Lys)
NM_152443.3(RDH12):c.579C>A (p.Arg193=)
NM_152443.3(RDH12):c.57T>C (p.Ala19=)
NM_152443.3(RDH12):c.580dup (p.Tyr194fs) rs2140145502
NM_152443.3(RDH12):c.585C>T (p.Ser195=)
NM_152443.3(RDH12):c.58C>T (p.Pro20Ser)
NM_152443.3(RDH12):c.593T>C (p.Phe198Ser)
NM_152443.3(RDH12):c.594T>C (p.Phe198=) rs776412935
NM_152443.3(RDH12):c.596C>T (p.Ala199Val)
NM_152443.3(RDH12):c.600T>C (p.Tyr200=) rs535474444
NM_152443.3(RDH12):c.601T>C (p.Cys201Arg) rs2038196341
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.60A>G (p.Pro20=) rs1594864246
NM_152443.3(RDH12):c.612G>A (p.Lys204=)
NM_152443.3(RDH12):c.616G>A (p.Ala206Thr) rs2140145599
NM_152443.3(RDH12):c.617C>A (p.Ala206Asp)
NM_152443.3(RDH12):c.617C>T (p.Ala206Val)
NM_152443.3(RDH12):c.624G>A (p.Val208=) rs2140145621
NM_152443.3(RDH12):c.630T>G (p.Phe210Leu) rs771268615
NM_152443.3(RDH12):c.634C>G (p.Arg212Gly) rs146653515
NM_152443.3(RDH12):c.635G>A (p.Arg212His)
NM_152443.3(RDH12):c.635G>T (p.Arg212Leu) rs768529116
NM_152443.3(RDH12):c.63C>T (p.Ser21=) rs552186839
NM_152443.3(RDH12):c.63_66del (p.Ile22fs) rs794729650
NM_152443.3(RDH12):c.641T>C (p.Leu214Pro) rs998898101
NM_152443.3(RDH12):c.643G>C (p.Ala215Pro)
NM_152443.3(RDH12):c.647A>G (p.Lys216Arg)
NM_152443.3(RDH12):c.648_658+20del rs878853341
NM_152443.3(RDH12):c.651G>C (p.Arg217Ser)
NM_152443.3(RDH12):c.658+13A>G rs1032999368
NM_152443.3(RDH12):c.658+14A>G
NM_152443.3(RDH12):c.658+16G>A
NM_152443.3(RDH12):c.658+18G>A
NM_152443.3(RDH12):c.658+1G>A rs387906272
NM_152443.3(RDH12):c.66C>A (p.Ile22=)
NM_152443.3(RDH12):c.68+12T>C
NM_152443.3(RDH12):c.68+16G>A
NM_152443.3(RDH12):c.68+17C>A rs2140138190
NM_152443.3(RDH12):c.68+19A>G
NM_152443.3(RDH12):c.68+1G>A rs2140138146
NM_152443.3(RDH12):c.68+5G>A rs2140138156
NM_152443.3(RDH12):c.68+6T>A
NM_152443.3(RDH12):c.68+8T>C
NM_152443.3(RDH12):c.69-16T>C
NM_152443.3(RDH12):c.69-16T>G rs375364895
NM_152443.3(RDH12):c.69-17G>C
NM_152443.3(RDH12):c.69-18T>C
NM_152443.3(RDH12):c.69-19_69-18del
NM_152443.3(RDH12):c.69-1G>A rs373279009
NM_152443.3(RDH12):c.69-3T>C rs757508966
NM_152443.3(RDH12):c.69-5G>A rs754192276
NM_152443.3(RDH12):c.69-5G>C
NM_152443.3(RDH12):c.69-9T>C
NM_152443.3(RDH12):c.69del
NM_152443.3(RDH12):c.6G>A (p.Leu2=)
NM_152443.3(RDH12):c.6G>C (p.Leu2=)
NM_152443.3(RDH12):c.90G>A (p.Val30=)
NM_152443.3(RDH12):c.98C>T (p.Thr33Ile)
NM_152443.3(RDH12):c.98del (p.Thr33fs)
NM_152443.3(RDH12):c.9C>T (p.Val3=)

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