ClinVar Miner

List of variants studied for retinitis pigmentosa by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (154):
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ClinVar version:
Total variants: 135
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HGVS dbSNP gnomAD frequency
NM_203288.2(RP9):c.314-9C>T rs6462460 0.99344
NM_001142800.2(EYS):c.4256T>C (p.Leu1419Ser) rs624851 0.77065
NM_001142800.2(EYS):c.2555T>C (p.Leu852Pro) rs9294631 0.67363
NM_001142800.2(EYS):c.1146T>C (p.Asn382=) rs974110 0.52503
NM_001142800.2(EYS):c.1809C>T (p.Val603=) rs9345601 0.50550
NM_001142800.2(EYS):c.1891G>A (p.Gly631Ser) rs9342464 0.50535
NM_001297.5(CNGB1):c.3462+7T>C rs11076207 0.37846
NM_001297.5(CNGB1):c.327C>T (p.Gly109=) rs17821448 0.36508
NM_001142800.2(EYS):c.5705A>T (p.Asn1902Ile) rs9353806 0.27343
NM_203288.2(RP9):c.629A>G (p.Lys210Arg) rs150987618 0.16255
NM_001029883.3(PCARE):c.1739C>T (p.Thr580Met) rs10166913 0.16186
NM_001297.5(CNGB1):c.2233C>A (p.Leu745Ile) rs10459809 0.14066
NM_015629.4(PRPF31):c.735C>T (p.Pro245=) rs11556769 0.08499
NM_015629.4(PRPF31):c.1467C>T (p.Val489=) rs62144168 0.08164
NM_001029883.3(PCARE):c.679G>A (p.Glu227Lys) rs114057537 0.03342
NM_006269.2(RP1):c.4784G>A (p.Arg1595Gln) rs35084330 0.03211
NM_006269.2(RP1):c.3699C>T (p.Ser1233=) rs114557304 0.03129
NM_001297.5(CNGB1):c.2854G>A (p.Val952Met) rs79889567 0.02173
NM_006343.3(MERTK):c.1493A>G (p.Asn498Ser) rs35858762 0.02007
NM_006915.3(RP2):c.844C>T (p.Arg282Trp) rs1805147 0.01957
NM_006445.4(PRPF8):c.4011A>G (p.Gln1337=) rs118000367 0.01936
NM_001142800.2(EYS):c.2733T>C (p.Asn911=) rs75634595 0.01917
NM_014014.5(SNRNP200):c.5775C>G (p.Ala1925=) rs72825880 0.01765
NM_000440.3(PDE6A):c.1171G>A (p.Val391Met) rs61732059 0.01720
NM_000440.3(PDE6A):c.1963C>T (p.His655Tyr) rs78775072 0.01647
NM_006445.4(PRPF8):c.6247C>T (p.Leu2083=) rs34341522 0.01503
NM_000440.3(PDE6A):c.84C>T (p.Tyr28=) rs34230349 0.01488
NM_006445.4(PRPF8):c.3299+14T>C rs16951071 0.01464
NM_006445.4(PRPF8):c.2631G>A (p.Ala877=) rs35420265 0.01452
NM_001379270.1(CNGA1):c.300A>G (p.Glu100=) rs76061451 0.01445
NM_001029883.3(PCARE):c.755C>A (p.Ala252Asp) rs77003681 0.01424
NM_006445.4(PRPF8):c.1855-13C>T rs16951135 0.01407
NM_006269.2(RP1):c.1118C>T (p.Thr373Ile) rs77775126 0.00985
NM_001142800.2(EYS):c.4093A>G (p.Lys1365Glu) rs16895519 0.00905
NM_006269.2(RP1):c.2255C>T (p.Thr752Met) rs28399531 0.00832
NM_006269.2(RP1):c.2991T>C (p.Asn997=) rs112667487 0.00829
NM_201548.5(CERKL):c.677+566G>T rs10185262 0.00821
NM_001142800.2(EYS):c.1596A>C (p.Lys532Asn) rs61753611 0.00740
NM_001297.5(CNGB1):c.2700G>A (p.Thr900=) rs72782250 0.00722
NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr) rs111991705 0.00667
NM_001142800.2(EYS):c.3345A>G (p.Glu1115=) rs114282214 0.00622
NM_006445.4(PRPF8):c.5469C>T (p.His1823=) rs115404141 0.00600
NM_001142800.2(EYS):c.7796A>G (p.His2599Arg) rs74636274 0.00587
NM_005802.5(TOPORS):c.2160C>T (p.Tyr720=) rs74328058 0.00561
NM_001029883.3(PCARE):c.2063G>A (p.Cys688Tyr) rs149601594 0.00556
NM_002098.6(GUCA1B):c.253G>A (p.Val85Met) rs137853903 0.00521
NM_001297.5(CNGB1):c.1122-18C>T rs79540781 0.00520
NM_001242957.3(MAK):c.1715T>C (p.Ile572Thr) rs79544660 0.00488
NM_000440.3(PDE6A):c.1086G>A (p.Ala362=) rs142259966 0.00445
NM_001029883.3(PCARE):c.3789G>A (p.Leu1263=) rs199689791 0.00417
NM_001142800.2(EYS):c.7578+18C>T rs147210136 0.00376
NM_001029883.3(PCARE):c.3739G>A (p.Gly1247Ser) rs187333111 0.00365
NM_001012720.2(RGR):c.744+5A>G rs143720091 0.00334
NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser) rs199689193 0.00333
NM_000440.3(PDE6A):c.1546C>G (p.Leu516Val) rs61733362 0.00312
NM_001297.5(CNGB1):c.1479G>A (p.Pro493=) rs1052029 0.00308
NM_001297.5(CNGB1):c.1626C>T (p.Thr542=) rs148735841 0.00308
NM_006343.3(MERTK):c.2851G>A (p.Ala951Thr) rs148261231 0.00304
NM_006445.4(PRPF8):c.2493C>G (p.Ser831=) rs146749363 0.00299
NM_201548.5(CERKL):c.66C>G (p.Pro22=) rs199762900 0.00287
NM_006343.3(MERTK):c.2593C>T (p.Arg865Trp) rs2230516 0.00274
NM_006445.4(PRPF8):c.435-6T>G rs75026252 0.00262
NM_001297.5(CNGB1):c.159+14C>T rs199591689 0.00255
NM_006269.2(RP1):c.3132A>C (p.Lys1044Asn) rs35234349 0.00236
NM_000717.5(CA4):c.*59G>A rs530720914 0.00195
NM_000327.4(ROM1):c.812T>C (p.Met271Thr) rs137950927 0.00178
NM_012418.4(FSCN2):c.357C>T (p.Ser119=) rs189437871 0.00165
NM_012418.4(FSCN2):c.633G>A (p.Thr211=) rs75815349 0.00165
NM_014014.5(SNRNP200):c.3315A>G (p.Ala1105=) rs151063400 0.00165
NM_001029883.3(PCARE):c.2875G>A (p.Ala959Thr) rs192350796 0.00140
NM_014014.5(SNRNP200):c.5766C>T (p.Leu1922=) rs147427344 0.00133
NM_001297.5(CNGB1):c.232G>A (p.Ala78Thr) rs201407276 0.00131
NM_001142800.2(EYS):c.4554A>C (p.Thr1518=) rs772339340 0.00124
NM_014014.5(SNRNP200):c.3005A>G (p.Asn1002Ser) rs143529458 0.00093
NM_000440.3(PDE6A):c.498G>A (p.Val166=) rs138274547 0.00092
NM_006269.2(RP1):c.228C>T (p.Leu76=) rs142600056 0.00073
NM_001297.5(CNGB1):c.3584C>G (p.Ser1195Cys) rs201186180 0.00066
NM_001029883.3(PCARE):c.1582C>T (p.Arg528Cys) rs80151896 0.00051
NM_012418.4(FSCN2):c.538C>T (p.Arg180Trp) rs200332556 0.00049
NM_001142800.2(EYS):c.2068T>A (p.Cys690Ser) rs370950723 0.00042
NM_014014.5(SNRNP200):c.2800A>G (p.Thr934Ala) rs149616320 0.00042
NM_012418.4(FSCN2):c.718G>A (p.Ala240Thr) rs370156011 0.00019
NM_001201543.2(FAM161A):c.1959G>T (p.Glu653Asp) rs201052209 0.00010
NM_006445.4(PRPF8):c.4202+19A>G rs1279339161 0.00009
NM_006915.3(RP2):c.613G>A (p.Glu205Lys) rs138731990 0.00008
NM_015629.4(PRPF31):c.935C>T (p.Thr312Ile) rs144322132 0.00008
NM_001297.5(CNGB1):c.2098C>T (p.Leu700Phe) rs181974243 0.00006
NM_001297.5(CNGB1):c.2958C>T (p.Asn986=) rs543509332 0.00006
NM_006445.4(PRPF8):c.690C>T (p.Phe230=) rs200640834 0.00006
NM_006269.2(RP1):c.1380G>C (p.Lys460Asn) rs143494598 0.00005
NM_006269.2(RP1):c.4735T>G (p.Leu1579Val) rs200860068 0.00005
NM_006445.4(PRPF8):c.6504C>T (p.Tyr2168=) rs753995574 0.00005
NM_006269.2(RP1):c.3317T>C (p.Val1106Ala) rs1043235694 0.00004
NM_006445.4(PRPF8):c.6108A>G (p.Gln2036=) rs373131838 0.00004
NM_006343.3(MERTK):c.2165G>A (p.Arg722Gln) rs147779020 0.00003
NM_000440.3(PDE6A):c.2369G>A (p.Arg790His) rs375516599 0.00002
NM_001379270.1(CNGA1):c.858A>G (p.Thr286=) rs533594644 0.00002
NM_006269.2(RP1):c.3504G>A (p.Lys1168=) rs191997072 0.00002
NM_006343.3(MERTK):c.520A>T (p.Ile174Phe) rs775179251 0.00002
NM_001201543.2(FAM161A):c.1328C>T (p.Ser443Leu) rs189711603 0.00001
NM_006269.2(RP1):c.2511A>G (p.Gln837=) rs753558619 0.00001
NM_006269.2(RP1):c.615+19C>T rs374595990 0.00001
NM_006445.4(PRPF8):c.1099-8T>C rs200865270 0.00001
NM_015629.4(PRPF31):c.1140C>T (p.Phe380=) rs1411083098 0.00001
NM_201548.5(CERKL):c.1192C>G (p.Gln398Glu) rs144793035 0.00001
NM_000440.3(PDE6A):c.1927-21C>G rs75282782
NM_000440.3(PDE6A):c.2098T>C (p.Tyr700His) rs1581164903
NM_001029883.3(PCARE):c.3264_3266del (p.Pro1089del) rs138020654
NM_001142800.2(EYS):c.2023+14_2023+15dup rs35045551
NM_001142800.2(EYS):c.359C>T (p.Thr120Met) rs12193967
NM_001142800.2(EYS):c.4613_4616del (p.Leu1538fs) rs1582929649
NM_001142800.2(EYS):c.6079-24TC[8] rs35395170
NM_001142800.2(EYS):c.7748G>C (p.Arg2583Pro) rs564020009
NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs) rs751629543
NM_001142800.2(EYS):c.9299_9302del (p.Thr3100fs) rs769824975
NM_001242957.3(MAK):c.843C>T (p.His281=) rs55950618
NM_001297.5(CNGB1):c.2664C>G (p.Ala888=) rs413562
NM_001297.5(CNGB1):c.299G>A (p.Arg100His) rs13336595
NM_001297.5(CNGB1):c.832G>C (p.Glu278Gln) rs1263336688
NM_001379270.1(CNGA1):c.762G>A (p.Leu254=) rs374697239
NM_005802.5(TOPORS):c.2006G>A (p.Arg669Lys) rs1563983554
NM_005802.5(TOPORS):c.842T>A (p.Ile281Asn) rs1302485735
NM_006269.2(RP1):c.510T>G (p.Val170=) rs1407578080
NM_006343.3(MERTK):c.1450+2T>G rs1573627154
NM_006343.3(MERTK):c.2070_2074del (p.Gly691fs) rs1573638426
NM_006343.3(MERTK):c.2162A>C (p.His721Pro) rs778005207
NM_006343.3(MERTK):c.756A>G (p.Pro252=) rs3761702
NM_006445.4(PRPF8):c.434+18A>C rs72820383
NM_006445.4(PRPF8):c.6854-4G>A rs75996323
NM_014014.5(SNRNP200):c.2041C>T (p.Arg681Cys) rs959069360
NM_014014.5(SNRNP200):c.382-13T>C rs759075763
NM_014014.5(SNRNP200):c.4036G>A (p.Val1346Met) rs779054512
NM_014014.5(SNRNP200):c.723G>A (p.Ser241=) rs2276647
NM_015629.4(PRPF31):c.1147-9= rs655240
NM_201548.5(CERKL):c.184G>T (p.Val62Leu) rs1574077394

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