ClinVar Miner

List of variants in gene combination GPHN, RDH12 reported as likely benign for RDH12-related recessive retinopathy

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 163
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HGVS dbSNP gnomAD frequency
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.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.630T>C (p.Phe210=) rs771268615 0.00005
NM_152443.3(RDH12):c.138C>T (p.Gly46=) rs140371232 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.558C>T (p.His186=) rs116465785 0.00004
NM_152443.3(RDH12):c.240C>T (p.Ala80=) rs771381285 0.00002
NM_152443.3(RDH12):c.321C>A (p.Ala107=) rs1296699520 0.00002
NM_152443.3(RDH12):c.456C>T (p.Phe152=) rs1191351202 0.00002
NM_152443.3(RDH12):c.621T>C (p.Asn207=) rs747183193 0.00002
NM_152443.3(RDH12):c.69-6C>T rs369709080 0.00002
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.277C>T (p.Leu93=) rs143278615 0.00001
NM_152443.3(RDH12):c.27C>A (p.Thr9=) rs1480470949 0.00001
NM_152443.3(RDH12):c.354G>A (p.Gln118=) rs761794309 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.448+14G>A rs1260581395 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.534C>T (p.His178=) rs1160809813 0.00001
NM_152443.3(RDH12):c.576G>A (p.Lys192=) rs764600869 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.102T>C (p.Asn34=)
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.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.147G>A (p.Thr49=)
NM_152443.3(RDH12):c.147G>T (p.Thr49=) rs750704865
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.184C>A (p.Arg62=)
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+20T>C
NM_152443.3(RDH12):c.187+3_187+8dup
NM_152443.3(RDH12):c.188-11C>T
NM_152443.3(RDH12):c.188-4C>A rs900384433
NM_152443.3(RDH12):c.188-5C>T
NM_152443.3(RDH12):c.188-7G>A
NM_152443.3(RDH12):c.18A>G (p.Gly6=) rs2140138040
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.201T>C (p.Tyr67=) rs1256943978
NM_152443.3(RDH12):c.211A>C (p.Arg71=)
NM_152443.3(RDH12):c.216T>C (p.Asp72=) rs963233306
NM_152443.3(RDH12):c.219A>G (p.Val73=)
NM_152443.3(RDH12):c.21G>A (p.Leu7=)
NM_152443.3(RDH12):c.231G>A (p.Glu77=) rs773709615
NM_152443.3(RDH12):c.234T>G (p.Ser78=)
NM_152443.3(RDH12):c.237T>G (p.Ala79=)
NM_152443.3(RDH12):c.249C>T (p.Ile83=)
NM_152443.3(RDH12):c.24C>T (p.Leu8=)
NM_152443.3(RDH12):c.273G>A (p.Gln91=)
NM_152443.3(RDH12):c.279G>A (p.Leu93=) rs2140142341
NM_152443.3(RDH12):c.289T>C (p.Leu97=) rs1267070599
NM_152443.3(RDH12):c.295C>T (p.Leu99=)
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.315C>T (p.Ile105=)
NM_152443.3(RDH12):c.333C>T (p.Gly111=)
NM_152443.3(RDH12):c.337C>T (p.Leu113=)
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.344-18T>C
NM_152443.3(RDH12):c.344-20T>G
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.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.378G>A (p.Ala126=)
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.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.441C>T (p.Asn147=) rs2140143816
NM_152443.3(RDH12):c.448+17G>A
NM_152443.3(RDH12):c.448+18A>T
NM_152443.3(RDH12):c.448+8T>A
NM_152443.3(RDH12):c.449-11T>C
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.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.498C>A (p.Ala166=) rs1244771115
NM_152443.3(RDH12):c.501T>C (p.Pro167=) rs199835155
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.522C>A (p.Ser174=) rs370741042
NM_152443.3(RDH12):c.522C>T (p.Ser174=) rs370741042
NM_152443.3(RDH12):c.537C>T (p.His179=)
NM_152443.3(RDH12):c.552C>T (p.Pro184=) rs1453486367
NM_152443.3(RDH12):c.564C>T (p.Leu188=)
NM_152443.3(RDH12):c.567G>A (p.Gln189=) rs2140145459
NM_152443.3(RDH12):c.579C>A (p.Arg193=)
NM_152443.3(RDH12):c.57T>C (p.Ala19=)
NM_152443.3(RDH12):c.585C>T (p.Ser195=)
NM_152443.3(RDH12):c.594T>C (p.Phe198=) rs776412935
NM_152443.3(RDH12):c.600T>C (p.Tyr200=) rs535474444
NM_152443.3(RDH12):c.60A>G (p.Pro20=) rs1594864246
NM_152443.3(RDH12):c.612G>A (p.Lys204=)
NM_152443.3(RDH12):c.624G>A (p.Val208=) rs2140145621
NM_152443.3(RDH12):c.63C>T (p.Ser21=) rs552186839
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.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+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.69-5G>A rs754192276
NM_152443.3(RDH12):c.69-5G>C
NM_152443.3(RDH12):c.69-9T>C
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.9C>T (p.Val3=)

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