ClinVar Miner

List of variants in gene RPGRIP1 studied for Cone-rod dystrophy 13

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Total variants: 132
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HGVS dbSNP gnomAD frequency
NM_020366.4(RPGRIP1):c.574A>G (p.Lys192Glu) rs6571751 0.48811
NM_020366.4(RPGRIP1):c.1152-65G>A rs3748357 0.34499
NM_020366.4(RPGRIP1):c.3097G>C (p.Glu1033Gln) rs3748361 0.25511
NM_020366.4(RPGRIP1):c.1797G>A (p.Pro599=) rs9322965 0.22187
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259 0.21790
NM_020366.4(RPGRIP1):c.2215+7G>A rs7157052 0.19970
NM_020366.4(RPGRIP1):c.525A>G (p.Pro175=) rs17792599 0.16008
NM_020366.4(RPGRIP1):c.287C>A (p.Pro96Gln) rs1040904 0.05758
NM_020366.4(RPGRIP1):c.3340-15C>T rs28664100 0.05325
NM_020366.4(RPGRIP1):c.3719G>A (p.Gly1240Glu) rs34725281 0.02464
NM_020366.4(RPGRIP1):c.*10T>C rs80191010 0.01626
NM_020366.4(RPGRIP1):c.3546C>T (p.Asp1182=) rs34116882 0.01609
NM_020366.4(RPGRIP1):c.1793G>A (p.Arg598Gln) rs74034910 0.01504
NM_020366.4(RPGRIP1):c.2417C>T (p.Thr806Ile) rs142796310 0.01022
NM_020366.4(RPGRIP1):c.256C>T (p.Arg86Trp) rs62646879 0.00919
NM_020366.4(RPGRIP1):c.2292G>A (p.Ala764=) rs35207255 0.00650
NM_020366.4(RPGRIP1):c.930+3A>G rs150107283 0.00419
NM_020366.4(RPGRIP1):c.2878G>C (p.Ala960Pro) rs35810926 0.00369
NM_020366.4(RPGRIP1):c.1767G>T (p.Gln589His) rs34067949 0.00344
NM_020366.4(RPGRIP1):c.218+13C>G rs200225522 0.00279
NM_020366.4(RPGRIP1):c.2284C>T (p.Leu762=) rs145896974 0.00240
NM_020366.4(RPGRIP1):c.2376G>A (p.Ser792=) rs185667326 0.00183
NM_020366.4(RPGRIP1):c.1753C>T (p.Pro585Ser) rs147586703 0.00155
NM_020366.4(RPGRIP1):c.95T>A (p.Met32Lys) rs200510462 0.00140
NM_020366.4(RPGRIP1):c.450C>G (p.Leu150=) rs144585562 0.00130
NM_020366.4(RPGRIP1):c.542C>G (p.Ala181Gly) rs186266220 0.00127
NM_020366.4(RPGRIP1):c.808A>G (p.Ile270Val) rs372615343 0.00084
NM_020366.4(RPGRIP1):c.2644C>T (p.Pro882Ser) rs200657688 0.00077
NM_020366.4(RPGRIP1):c.2555G>A (p.Arg852Gln) rs181758389 0.00076
NM_020366.4(RPGRIP1):c.74C>T (p.Pro25Leu) rs199590641 0.00073
NM_020366.4(RPGRIP1):c.3171C>T (p.His1057=) rs201838837 0.00053
NM_020366.4(RPGRIP1):c.2550G>A (p.Gln850=) rs200268506 0.00051
NM_020366.4(RPGRIP1):c.3358A>G (p.Ile1120Val) rs137853911 0.00051
NM_020366.4(RPGRIP1):c.1078-9C>A rs371312060 0.00042
NM_020366.4(RPGRIP1):c.2665G>A (p.Ala889Thr) rs184926375 0.00031
NM_020366.4(RPGRIP1):c.376G>C (p.Gly126Arg) rs375226924 0.00030
NM_020366.4(RPGRIP1):c.1920C>T (p.Ala640=) rs368434311 0.00029
NM_020366.4(RPGRIP1):c.2435G>A (p.Arg812Gln) rs190490019 0.00024
NM_020366.4(RPGRIP1):c.2075A>G (p.His692Arg) rs200401966 0.00023
NM_020366.4(RPGRIP1):c.3505G>C (p.Glu1169Gln) rs201191634 0.00021
NM_020366.4(RPGRIP1):c.907G>A (p.Ala303Thr) rs200168103 0.00020
NM_020366.4(RPGRIP1):c.161G>A (p.Arg54His) rs376250340 0.00016
NM_020366.4(RPGRIP1):c.1236G>A (p.Gln412=) rs140904308 0.00014
NM_020366.4(RPGRIP1):c.968T>C (p.Leu323Pro) rs199982906 0.00014
NM_020366.4(RPGRIP1):c.1904C>G (p.Ala635Gly) rs200325360 0.00012
NM_020366.4(RPGRIP1):c.2063C>T (p.Ser688Leu) rs543867152 0.00011
NM_020366.4(RPGRIP1):c.2710+11G>A rs368181053 0.00011
NM_020366.4(RPGRIP1):c.491-3T>C rs749376395 0.00011
NM_020366.4(RPGRIP1):c.658A>G (p.Met220Val) rs371762530 0.00011
NM_020366.4(RPGRIP1):c.2334T>C (p.Asp778=) rs188318743 0.00010
NM_020366.4(RPGRIP1):c.2510C>G (p.Ala837Gly) rs373515194 0.00008
NM_020366.4(RPGRIP1):c.*76A>G rs191842624 0.00006
NM_020366.4(RPGRIP1):c.3064C>T (p.Leu1022Phe) rs367899074 0.00006
NM_020366.4(RPGRIP1):c.310G>C (p.Gly104Arg) rs377018856 0.00006
NM_020366.4(RPGRIP1):c.3221C>G (p.Pro1074Arg) rs372226099 0.00006
NM_020366.4(RPGRIP1):c.50T>C (p.Ile17Thr) rs201384449 0.00006
NM_020366.4(RPGRIP1):c.2480G>A (p.Arg827His) rs28937883 0.00005
NM_020366.4(RPGRIP1):c.1111C>T (p.Arg371Ter) rs375859404 0.00004
NM_020366.4(RPGRIP1):c.116G>A (p.Ser39Asn) rs376435824 0.00004
NM_020366.4(RPGRIP1):c.154C>T (p.Arg52Ter) rs192003551 0.00004
NM_020366.4(RPGRIP1):c.2302C>T (p.Arg768Ter) rs75459701 0.00004
NM_020366.4(RPGRIP1):c.2663G>A (p.Arg888Gln) rs559905596 0.00004
NM_020366.4(RPGRIP1):c.3377C>T (p.Ala1126Val) rs760334377 0.00004
NM_020366.4(RPGRIP1):c.3749-2A>G rs376517859 0.00004
NM_020366.4(RPGRIP1):c.846C>T (p.Leu282=) rs201186199 0.00004
NM_020366.4(RPGRIP1):c.*44T>C rs370767680 0.00003
NM_020366.4(RPGRIP1):c.1197C>T (p.Asn399=) rs372186092 0.00003
NM_020366.4(RPGRIP1):c.77C>T (p.Ala26Val) rs187598648 0.00003
NM_020366.4(RPGRIP1):c.787G>T (p.Ala263Ser) rs780673799 0.00003
NM_020366.4(RPGRIP1):c.1059G>C (p.Leu353Phe) rs756365691 0.00002
NM_020366.4(RPGRIP1):c.1200G>A (p.Glu400=) rs749098397 0.00002
NM_020366.4(RPGRIP1):c.1401A>G (p.Gln467=) rs184853466 0.00002
NM_020366.4(RPGRIP1):c.1892A>G (p.His631Arg) rs535922252 0.00002
NM_020366.4(RPGRIP1):c.2291C>T (p.Ala764Val) rs758652031 0.00002
NM_020366.4(RPGRIP1):c.2618A>G (p.His873Arg) rs573418252 0.00002
NM_020366.4(RPGRIP1):c.2662C>T (p.Arg888Ter) rs1030149008 0.00002
NM_020366.4(RPGRIP1):c.2924T>C (p.Ile975Thr) rs886050399 0.00002
NM_020366.4(RPGRIP1):c.3760G>A (p.Glu1254Lys) rs370728861 0.00002
NM_020366.4(RPGRIP1):c.3779T>C (p.Ile1260Thr) rs752222755 0.00002
NM_020366.4(RPGRIP1):c.912C>T (p.Tyr304=) rs568372341 0.00002
NM_020366.4(RPGRIP1):c.938G>A (p.Gly313Glu) rs755322533 0.00002
NM_020366.4(RPGRIP1):c.1506C>A (p.Ser502=) rs777877901 0.00001
NM_020366.4(RPGRIP1):c.1628T>C (p.Met543Thr) rs1007825048 0.00001
NM_020366.4(RPGRIP1):c.1921G>A (p.Ala641Thr) rs753575515 0.00001
NM_020366.4(RPGRIP1):c.1976A>G (p.Tyr659Cys) rs1278572461 0.00001
NM_020366.4(RPGRIP1):c.2331C>T (p.Thr777=) rs760801598 0.00001
NM_020366.4(RPGRIP1):c.2440C>T (p.Arg814Ter) rs759940113 0.00001
NM_020366.4(RPGRIP1):c.2441G>T (p.Arg814Leu) rs372647080 0.00001
NM_020366.4(RPGRIP1):c.2554C>T (p.Arg852Ter) rs1429786931 0.00001
NM_020366.4(RPGRIP1):c.262C>T (p.Leu88=) rs769162918 0.00001
NM_020366.4(RPGRIP1):c.2775G>A (p.Trp925Ter) rs398124354 0.00001
NM_020366.4(RPGRIP1):c.3239-14C>T rs542859849 0.00001
NM_020366.4(RPGRIP1):c.3565C>T (p.Arg1189Ter) rs752175052 0.00001
NM_020366.4(RPGRIP1):c.3814G>A (p.Val1272Ile) rs778860397 0.00001
NM_020366.4(RPGRIP1):c.386A>T (p.His129Leu) rs547876047 0.00001
NM_020366.4(RPGRIP1):c.800+1G>A rs376500610 0.00001
GRCh38/hg38 14q11.2(chr14:21287774-21294830)x3
NC_000014.9:g.(21329937_21330486)del
NM_020366.3(RPGRIP1):c.2896delG rs863224913
NM_020366.4(RPGRIP1):c.*81A>G rs182458550
NM_020366.4(RPGRIP1):c.1077+13A>G rs886050398
NM_020366.4(RPGRIP1):c.1107del (p.Glu370fs) rs61751266
NM_020366.4(RPGRIP1):c.1208C>T (p.Ala403Val) rs779216995
NM_020366.4(RPGRIP1):c.127C>T (p.Arg43Trp) rs751975588
NM_020366.4(RPGRIP1):c.1506C>T (p.Ser502=) rs777877901
NM_020366.4(RPGRIP1):c.1612-3C>A rs1594204748
NM_020366.4(RPGRIP1):c.191C>T (p.Ser64Phe) rs1880692860
NM_020366.4(RPGRIP1):c.2368-2A>G rs1064797182
NM_020366.4(RPGRIP1):c.2465_2468dup (p.Ala824fs) rs745741473
NM_020366.4(RPGRIP1):c.2480G>T (p.Arg827Leu) rs28937883
NM_020366.4(RPGRIP1):c.268G>A (p.Val90Ile) rs1057519200
NM_020366.4(RPGRIP1):c.2692A>G (p.Lys898Glu) rs1182119707
NM_020366.4(RPGRIP1):c.2700A>C (p.Glu900Asp) rs781608496
NM_020366.4(RPGRIP1):c.2718dup (p.Asn907Ter) rs776289402
NM_020366.4(RPGRIP1):c.2878G>T (p.Ala960Ser) rs35810926
NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter) rs780667159
NM_020366.4(RPGRIP1):c.3055A>T (p.Met1019Leu) rs886050400
NM_020366.4(RPGRIP1):c.3291C>T (p.Asp1097=) rs979101838
NM_020366.4(RPGRIP1):c.3444C>G (p.Phe1148Leu) rs886050401
NM_020366.4(RPGRIP1):c.3448G>T (p.Asp1150Tyr) rs144704092
NM_020366.4(RPGRIP1):c.349C>T (p.Gln117Ter)
NM_020366.4(RPGRIP1):c.3570G>T (p.Arg1190Ser) rs756503753
NM_020366.4(RPGRIP1):c.3571C>T (p.Arg1191Trp) rs188660364
NM_020366.4(RPGRIP1):c.3617+1G>A rs771116776
NM_020366.4(RPGRIP1):c.3618-1_3621del rs1594280740
NM_020366.4(RPGRIP1):c.3787C>A (p.Leu1263Met) rs1216759071
NM_020366.4(RPGRIP1):c.505C>T (p.Leu169=) rs1881075996
NM_020366.4(RPGRIP1):c.640A>C (p.Lys214Gln) rs767213505
NM_020366.4(RPGRIP1):c.673del (p.His225fs) rs752263228
NM_020366.4(RPGRIP1):c.840G>C (p.Lys280Asn)
NM_020366.4(RPGRIP1):c.906+2T>G rs1594180201
NM_020366.4(RPGRIP1):c.953C>G (p.Ala318Gly)

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