ClinVar Miner

List of variants reported as likely benign for blindness (disorder) by Illumina Laboratory Services, Illumina

Included ClinVar conditions (48):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 127
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HGVS dbSNP gnomAD frequency
NM_019098.5(CNGB3):c.*909_*910del rs3217489 0.08432
NM_198506.5(LRIT3):c.*1194T>A rs56285361 0.04634
NM_001298.2(CNGA3):c.*1351T>G rs28376087 0.03691
NM_001004334.4(GPR179):c.2040C>T (p.Asp680=) rs111770829 0.02523
NM_001378477.3(NYX):c.*414C>T rs58930096 0.02379
NM_006204.4(PDE6C):c.2096A>C (p.Glu699Ala) rs12261131 0.02167
NM_019098.5(CNGB3):c.595G>A (p.Glu199Lys) rs114305748 0.01886
NM_001378477.3(NYX):c.*736G>C rs141612904 0.01806
NM_019098.5(CNGB3):c.80A>G (p.Asn27Ser) rs35807406 0.01728
NM_004727.3(SLC24A1):c.1822G>A (p.Val608Ile) rs35984752 0.01683
NM_001252024.2(TRPM1):c.*447G>C rs35415636 0.01490
NM_001004334.4(GPR179):c.654T>G (p.Asp218Glu) rs74871223 0.01200
NM_001004334.4(GPR179):c.74C>A (p.Ala25Asp) rs111677298 0.01196
NM_001377295.2(GNAT2):c.-53-76A>G rs116819755 0.00917
NM_006205.3(PDE6H):c.-29G>C rs114575851 0.00911
NM_006204.4(PDE6C):c.2208+14A>C rs61701022 0.00810
NM_019098.5(CNGB3):c.1626C>T (p.Ser542=) rs35903042 0.00786
NM_004727.3(SLC24A1):c.*1931C>T rs75577183 0.00760
NM_004727.3(SLC24A1):c.-164C>T rs79327611 0.00743
NM_006204.4(PDE6C):c.*26A>G rs112520932 0.00703
NM_004727.3(SLC24A1):c.-113C>T rs76680467 0.00702
NM_001004334.4(GPR179):c.3454T>C (p.Ser1152Pro) rs149252987 0.00689
NM_006204.4(PDE6C):c.203C>T (p.Thr68Ile) rs62642544 0.00670
NM_019098.5(CNGB3):c.*621G>A rs116835980 0.00669
NM_019098.5(CNGB3):c.212-3T>C rs79126074 0.00635
NM_006204.4(PDE6C):c.724-15G>T rs141403797 0.00596
NM_006204.4(PDE6C):c.1936-9A>G rs182445749 0.00536
NM_001298.3(CNGA3):c.215+11A>G rs199755395 0.00490
NM_001004334.4(GPR179):c.2604G>C (p.Glu868Asp) rs201214109 0.00473
NM_004727.3(SLC24A1):c.*1504C>T rs116886540 0.00464
NM_001298.3(CNGA3):c.143C>T (p.Pro48Leu) rs62156348 0.00451
NM_001377295.2(GNAT2):c.370G>A (p.Val124Met) rs41280330 0.00428
NM_001252024.2(TRPM1):c.536C>T (p.Ser179Phe) rs138886378 0.00409
NM_001004334.4(GPR179):c.3847C>T (p.Pro1283Ser) rs150125328 0.00382
NM_001378477.3(NYX):c.828G>A (p.Glu276=) rs3810733 0.00379
NM_001298.3(CNGA3):c.396-4G>A rs114951127 0.00360
NM_001252024.2(TRPM1):c.3549G>C (p.Gln1183His) rs182549235 0.00354
NM_198506.5(LRIT3):c.1442C>T (p.Thr481Met) rs116570736 0.00352
NM_145200.5(CABP4):c.360C>T (p.Phe120=) rs192900242 0.00342
NM_001252024.2(TRPM1):c.615G>A (p.Lys205=) rs141363524 0.00337
NM_004727.3(SLC24A1):c.*37A>C rs73470085 0.00333
NM_001252024.2(TRPM1):c.2316+12G>A rs76451613 0.00325
NM_198506.5(LRIT3):c.*1490T>C rs183244433 0.00317
NM_000539.3(RHO):c.152G>C (p.Gly51Ala) rs149079952 0.00296
NM_001004334.4(GPR179):c.6336G>A (p.Ala2112=) rs186214845 0.00296
NM_001004334.4(GPR179):c.5563C>G (p.Leu1855Val) rs79954845 0.00280
NM_001378477.3(NYX):c.*152A>G rs370733549 0.00277
NM_004727.3(SLC24A1):c.1859C>T (p.Ala620Val) rs35398714 0.00276
NM_004727.3(SLC24A1):c.-275G>A rs115370128 0.00275
NM_001252024.2(TRPM1):c.2991C>T (p.Val997=) rs115529590 0.00272
NM_001252024.2(TRPM1):c.4349C>T (p.Thr1450Met) rs113814575 0.00271
NM_001004334.4(GPR179):c.4709C>T (p.Thr1570Met) rs187512697 0.00241
NM_001004334.4(GPR179):c.4306C>T (p.Arg1436Trp) rs147966258 0.00228
NM_001004334.4(GPR179):c.5019C>G (p.Thr1673=) rs182907807 0.00219
NM_001004334.4(GPR179):c.959G>A (p.Arg320Gln) rs189931659 0.00194
NM_004727.3(SLC24A1):c.2778C>T (p.Pro926=) rs117685425 0.00190
NM_001004334.4(GPR179):c.1029C>T (p.Phe343=) rs149830172 0.00183
NM_000283.4(PDE6B):c.*474C>G rs577140751 0.00180
NM_000539.3(RHO):c.480C>A (p.Thr160=) rs151063543 0.00180
NM_001252024.2(TRPM1):c.1573-10T>C rs202224865 0.00162
NM_001004334.4(GPR179):c.5975G>A (p.Gly1992Asp) rs200936863 0.00160
NM_145200.5(CABP4):c.455G>A (p.Arg152Gln) rs143257000 0.00159
NM_001298.3(CNGA3):c.740C>T (p.Thr247Met) rs148616345 0.00158
NM_000539.3(RHO):c.381C>G (p.Ser127=) rs146311684 0.00144
NM_001004334.4(GPR179):c.657A>T (p.Gly219=) rs116896787 0.00141
NM_004727.3(SLC24A1):c.2171C>T (p.Thr724Met) rs191146484 0.00125
NM_001004334.4(GPR179):c.61G>C (p.Val21Leu) rs150616884 0.00120
NM_001004334.4(GPR179):c.725G>A (p.Arg242Gln) rs143624972 0.00120
NM_001377295.2(GNAT2):c.147C>T (p.Ile49=) rs146945932 0.00115
NM_145200.5(CABP4):c.*1392T>C rs77807407 0.00111
NM_001252024.2(TRPM1):c.1255C>T (p.His419Tyr) rs201213623 0.00104
NM_198506.5(LRIT3):c.*1267C>T rs190337829 0.00101
NM_001378477.3(NYX):c.1183G>A (p.Gly395Ser) rs189924262 0.00089
NM_019098.5(CNGB3):c.*125G>C rs186370374 0.00087
NM_145200.5(CABP4):c.652-11G>A rs117175952 0.00087
NM_001378477.3(NYX):c.1020G>A (p.Glu340=) rs143486101 0.00079
NM_001378477.3(NYX):c.1212C>T (p.Thr404=) rs187149252 0.00079
NM_000283.4(PDE6B):c.1401+4C>T rs113246945 0.00077
NM_000539.3(RHO):c.969C>T (p.Cys323=) rs142771862 0.00075
NM_019098.5(CNGB3):c.319G>A (p.Gly107Arg) rs146688972 0.00057
NM_001252024.2(TRPM1):c.4502G>A (p.Arg1501His) rs111649153 0.00053
NM_001252024.2(TRPM1):c.*206A>G rs185083296 0.00044
NM_000539.3(RHO):c.891C>T (p.Ser297=) rs142285818 0.00041
NM_198506.5(LRIT3):c.*683G>A rs564004924 0.00041
NM_145200.5(CABP4):c.*2186C>T rs191420904 0.00039
NM_001004334.4(GPR179):c.4381G>C (p.Glu1461Gln) rs201149338 0.00037
NM_198506.5(LRIT3):c.1445A>C (p.Glu482Ala) rs75722024 0.00034
NM_000283.4(PDE6B):c.2504-1G>C rs201870319 0.00029
NM_019098.5(CNGB3):c.912C>T (p.Val304=) rs117806701 0.00029
NM_001377295.2(GNAT2):c.369C>T (p.Leu123=) rs12046787 0.00028
NM_145200.5(CABP4):c.799+15C>T rs374925466 0.00026
NM_019098.5(CNGB3):c.2415A>C (p.Glu805Asp) rs186448979 0.00025
NM_001004334.4(GPR179):c.627C>T (p.Leu209=) rs143660134 0.00024
NM_001298.3(CNGA3):c.1746C>T (p.Asp582=) rs77311157 0.00023
NM_001004334.4(GPR179):c.3726G>A (p.Glu1242=) rs118133878 0.00019
NM_001378477.3(NYX):c.1379G>T (p.Cys460Phe) rs374968384 0.00019
NM_000283.4(PDE6B):c.170C>T (p.Thr57Met) rs149359860 0.00016
NM_000539.3(RHO):c.624C>T (p.Phe208=) rs113751838 0.00014
NM_001298.2(CNGA3):c.-406C>T rs529394802 0.00012
NM_144499.3(GNAT1):c.39G>A (p.Arg13=) rs201955783 0.00012
NM_000539.3(RHO):c.959C>A (p.Thr320Asn) rs138831590 0.00011
NM_001004334.4(GPR179):c.3426C>T (p.Ala1142=) rs371169614 0.00009
NM_000283.4(PDE6B):c.2269-11C>T rs370169775 0.00008
NM_000283.4(PDE6B):c.926G>A (p.Arg309Gln) rs145756948 0.00007
NM_000283.4(PDE6B):c.59G>A (p.Arg20His) rs781251175 0.00006
NM_000283.4(PDE6B):c.682C>A (p.Leu228Ile) rs201584824 0.00006
NM_006204.4(PDE6C):c.*209T>C rs530054025 0.00006
NM_145200.5(CABP4):c.*2716T>C rs192454438 0.00005
NM_000539.3(RHO):c.1025C>T (p.Thr342Met) rs183318466 0.00004
NM_001252024.2(TRPM1):c.1285C>A (p.Pro429Thr) rs374376006 0.00004
NM_001252024.2(TRPM1):c.2631C>G (p.Gly877=) rs150735353 0.00004
NM_144499.3(GNAT1):c.15C>T (p.Ala5=) rs376502535 0.00004
NM_000283.4(PDE6B):c.285C>T (p.Phe95=) rs746211772 0.00003
NM_000283.4(PDE6B):c.1779C>T (p.Ala593=) rs769147926 0.00002
NM_000283.4(PDE6B):c.2352+13C>T rs374527841 0.00002
NM_001252024.2(TRPM1):c.2316+11C>T rs369026007 0.00002
NM_001298.3(CNGA3):c.59C>T (p.Thr20Ile) rs143489966 0.00002
NM_000283.4(PDE6B):c.*79A>G rs753277194 0.00001
NM_000539.3(RHO):c.62G>A (p.Arg21His) rs552455660 0.00001
NM_000539.3(RHO):c.948C>T (p.Cys316=) rs754809715
NM_001004334.4(GPR179):c.3819C>G (p.Ala1273=) rs201777145
NM_001004334.4(GPR179):c.4888G>C (p.Glu1630Gln) rs149998444
NM_001252024.2(TRPM1):c.4330C>T (p.Arg1444Cys) rs3784587
NM_006204.4(PDE6C):c.2466G>A (p.Lys822=) rs79487435
NM_006204.4(PDE6C):c.2466G>C (p.Lys822Asn) rs79487435
NM_019098.5(CNGB3):c.494-11dup rs36008065
NM_198506.5(LRIT3):c.*303G>A rs556856274

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