ClinVar Miner

List of variants reported as benign for inherited retinal dystrophy by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (419):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 85
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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 0.76831
NM_001142800.2(EYS):c.2555T>C (p.Leu852Pro) rs9294631 0.66464
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 0.36916
NM_001903.5(CTNNA1):c.2220G>A (p.Ser740=) rs1059110 0.32259
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_152443.3(RDH12):c.482G>A (p.Arg161Gln) rs17852293 0.12003
NM_015629.4(PRPF31):c.735C>T (p.Pro245=) rs11556769 0.08507
NM_015629.4(PRPF31):c.1467C>T (p.Val489=) rs62144168 0.08162
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_001029883.3(PCARE):c.679G>A (p.Glu227Lys) rs114057537 0.03118
NM_001297.5(CNGB1):c.2854G>A (p.Val952Met) rs79889567 0.02046
NM_006445.4(PRPF8):c.4011A>G (p.Gln1337=) rs118000367 0.01936
NM_001903.5(CTNNA1):c.2226C>G (p.Val742=) rs11552052 0.01930
NM_001142800.2(EYS):c.2733T>C (p.Asn911=) rs75634595 0.01917
NM_006915.3(RP2):c.844C>T (p.Arg282Trp) rs1805147 0.01917
NM_006343.3(MERTK):c.1493A>G (p.Asn498Ser) rs35858762 0.01861
NM_000440.3(PDE6A):c.1171G>A (p.Val391Met) rs61732059 0.01720
NM_000440.3(PDE6A):c.1963C>T (p.His655Tyr) rs78775072 0.01605
NM_006445.4(PRPF8):c.6247C>T (p.Leu2083=) rs34341522 0.01503
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_000440.3(PDE6A):c.84C>T (p.Tyr28=) rs34230349 0.01404
NM_006445.4(PRPF8):c.3299+14T>C rs16951071 0.01351
NM_000390.4(CHM):c.265A>T (p.Ser89Cys) rs145707160 0.01242
NM_006269.2(RP1):c.1118C>T (p.Thr373Ile) rs77775126 0.01007
NM_001164688.2(RD3):c.84G>A (p.Thr28=) rs61740158 0.00932
NM_001142800.2(EYS):c.4093A>G (p.Lys1365Glu) rs16895519 0.00905
NM_001164688.2(RD3):c.16T>C (p.Trp6Arg) rs35649846 0.00871
NM_006269.2(RP1):c.2255C>T (p.Thr752Met) rs28399531 0.00832
NM_001164688.2(RD3):c.235T>C (p.Leu79=) rs35937732 0.00825
NM_201548.5(CERKL):c.677+566G>T rs10185262 0.00821
NM_001164688.2(RD3):c.69G>C (p.Glu23Asp) rs34422496 0.00786
NM_006269.2(RP1):c.2991T>C (p.Asn997=) rs112667487 0.00770
NM_001297.5(CNGB1):c.2700G>A (p.Thr900=) rs72782250 0.00722
NM_001142800.2(EYS):c.3345A>G (p.Glu1115=) rs114282214 0.00571
NM_001029883.3(PCARE):c.2063G>A (p.Cys688Tyr) rs149601594 0.00556
NM_005802.5(TOPORS):c.2160C>T (p.Tyr720=) rs74328058 0.00555
NM_006445.4(PRPF8):c.5469C>T (p.His1823=) rs115404141 0.00553
NM_001297.5(CNGB1):c.1122-18C>T rs79540781 0.00494
NM_002098.6(GUCA1B):c.253G>A (p.Val85Met) rs137853903 0.00490
NM_000440.3(PDE6A):c.1086G>A (p.Ala362=) rs142259966 0.00424
NM_001029883.3(PCARE):c.3789G>A (p.Leu1263=) rs199689791 0.00417
NM_001903.5(CTNNA1):c.618G>C (p.Gln206His) rs150893072 0.00402
NM_001012720.2(RGR):c.744+5A>G rs143720091 0.00334
NM_001297.5(CNGB1):c.1479G>A (p.Pro493=) rs1052029 0.00308
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_006445.4(PRPF8):c.435-6T>G rs75026252 0.00262
NM_001297.5(CNGB1):c.159+14C>T rs199591689 0.00255
NM_000327.4(ROM1):c.812T>C (p.Met271Thr) rs137950927 0.00178
NM_001903.5(CTNNA1):c.1845C>T (p.Ser615=) rs150965493 0.00178
NM_001201543.2(FAM161A):c.1959G>T (p.Glu653Asp) rs201052209 0.00176
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_012418.4(FSCN2):c.357C>T (p.Ser119=) rs189437871 0.00162
NM_001029883.3(PCARE):c.2875G>A (p.Ala959Thr) rs192350796 0.00140
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_022787.4(NMNAT1):c.471A>G (p.Ala157=) rs373788044 0.00001
NM_000390.4(CHM):c.1511-6del rs775072539
NM_000440.3(PDE6A):c.1927-21C>G rs75282782
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.6079-24TC[8] rs35395170
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_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.723G>A (p.Ser241=) rs2276647
NM_015629.4(PRPF31):c.1147-9= rs655240

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