ClinVar Miner

List of variants studied for inherited retinal dystrophy by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Included ClinVar conditions (419):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_001201543.2(FAM161A):c.1212T>C (p.Cys404=) rs4672457 0.98181
NM_001142800.2(EYS):c.4256T>C (p.Leu1419Ser) rs624851 0.76831
NM_001142800.2(EYS):c.1300-3C>T rs1936439 0.67592
NM_001142800.2(EYS):c.2555T>C (p.Leu852Pro) rs9294631 0.66464
NM_201548.5(CERKL):c.896-18T>A rs13003064 0.59440
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.1122-15C>T rs2303778 0.46316
NM_014053.4(FLVCR1):c.154G>C (p.Ala52Pro) rs11120047 0.45814
NM_014053.4(FLVCR1):c.1631C>T (p.Thr544Met) rs3207090 0.39516
NM_001142800.2(EYS):c.6977G>A (p.Arg2326Gln) rs4710457 0.35062
NM_201548.5(CERKL):c.239-12T>A rs6433923 0.22971
NM_014053.4(FLVCR1):c.1307+19T>A rs2291772 0.22175
NM_014053.4(FLVCR1):c.1593+9T>C rs17019870 0.22137
NM_001142800.2(EYS):c.1712A>G (p.Gln571Arg) rs61753610 0.12981
NM_014053.4(FLVCR1):c.1272T>C (p.Tyr424=) rs17677416 0.02674
NM_000843.4(GRM6):c.1307C>T (p.Thr436Ile) rs5019554 0.00766
NM_006204.4(PDE6C):c.1755G>T (p.Lys585Asn) rs45522236 0.00677
NM_014989.7(RIMS1):c.2670T>C (p.His890=) rs34821160 0.00517
NM_000843.4(GRM6):c.1533C>T (p.His511=) rs61733043 0.00476
NM_001242957.3(MAK):c.1715T>C (p.Ile572Thr) rs79544660 0.00469
NM_022787.4(NMNAT1):c.115+3A>G rs181504239 0.00447
NM_012418.4(FSCN2):c.150C>G (p.Pro50=) rs184519759 0.00391
NM_001029883.3(PCARE):c.3739G>A (p.Gly1247Ser) rs187333111 0.00365
NM_001029883.3(PCARE):c.3447G>A (p.Pro1149=) rs200278694 0.00363
NM_002929.3(GRK1):c.162C>T (p.Leu54=) rs73579342 0.00353
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256 0.00350
NM_021961.6(TEAD1):c.675C>T (p.Leu225=) rs148823826 0.00290
NM_001004334.4(GPR179):c.6336G>A (p.Ala2112=) rs186214845 0.00287
NM_201548.5(CERKL):c.66C>G (p.Pro22=) rs199762900 0.00287
NM_000843.4(GRM6):c.1875C>T (p.Tyr625=) rs62638215 0.00252
NM_012418.4(FSCN2):c.49G>A (p.Val17Ile) rs137853900 0.00244
NM_172364.5(CACNA2D4):c.2891C>T (p.Ala964Val) rs201325274 0.00215
NM_172364.5(CACNA2D4):c.3356C>T (p.Pro1119Leu) rs145150489 0.00210
NM_020461.4(TUBGCP6):c.5139C>T (p.His1713=) rs149152116 0.00206
NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val) rs147641443 0.00192
NM_001029883.3(PCARE):c.2600C>T (p.Pro867Leu) rs182248363 0.00190
NM_003816.3(ADAM9):c.914+8T>A rs377447230 0.00173
NM_033100.4(CDHR1):c.1071C>T (p.Ser357=) rs146588811 0.00167
NM_033100.4(CDHR1):c.526-7C>G rs190906755 0.00166
NM_001004334.4(GPR179):c.5975G>A (p.Gly1992Asp) rs200936863 0.00160
NM_177965.4(CFAP418):c.528A>G (p.Thr176=) rs143748636 0.00155
NM_201548.5(CERKL):c.820+9G>A rs189638090 0.00153
NM_001201543.2(FAM161A):c.2064T>C (p.Ile688=) rs138464813 0.00145
NM_033100.4(CDHR1):c.1461G>A (p.Gly487=) rs141787212 0.00144
NM_001029883.3(PCARE):c.2875G>A (p.Ala959Thr) rs192350796 0.00140
NM_172364.5(CACNA2D4):c.2095C>T (p.Leu699Phe) rs151121191 0.00130
NM_001142800.2(EYS):c.4554A>C (p.Thr1518=) rs772339340 0.00124
NM_004523.4(KIF11):c.2153A>T (p.His718Leu) rs116942055 0.00124
NM_000929.3(PLA2G5):c.312T>C (p.His104=) rs149833360 0.00121
NM_001377295.2(GNAT2):c.147C>T (p.Ile49=) rs146945932 0.00115
NM_001004334.4(GPR179):c.6824T>C (p.Leu2275Pro) rs148601715 0.00108
NM_201548.5(CERKL):c.735G>C (p.Leu245=) rs140898616 0.00092
NM_001004334.4(GPR179):c.3441C>T (p.Ser1147=) rs377711366 0.00054
NM_001297.5(CNGB1):c.2370-9C>T rs374373659 0.00050
NM_177965.4(CFAP418):c.269A>G (p.Asn90Ser) rs199731969 0.00046
NM_001004334.4(GPR179):c.2022C>T (p.Asp674=) rs79623844 0.00041
NM_001004334.4(GPR179):c.795-4G>A rs150772690 0.00038
NM_001297.5(CNGB1):c.412+8C>A rs185727761 0.00030
NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe) rs201819948 0.00023
NM_001297.5(CNGB1):c.838-4G>T rs375539469 0.00022
NM_172364.5(CACNA2D4):c.2516C>T (p.Ala839Val) rs146752598 0.00016
NM_001142800.2(EYS):c.1673G>A (p.Trp558Ter) rs201823777 0.00012
NM_012418.4(FSCN2):c.1025G>A (p.Arg342Gln) rs374441539 0.00007
NM_201548.5(CERKL):c.365T>G (p.Leu122Arg) rs558913945 0.00001
NM_001029883.3(PCARE):c.1545dup (p.Ser516fs) rs1553354826
NM_001142800.2(EYS):c.334G>A (p.Val112Ile) rs112609906
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs) rs761238771
NM_006204.4(PDE6C):c.2466G>A (p.Lys822=) rs79487435
NM_006204.4(PDE6C):c.252G>T (p.Leu84=) rs1131978
NM_014053.4(FLVCR1):c.1594-13_1594-10dup rs41301015
NM_015629.4(PRPF31):c.527+9G>T rs376994481
NM_020461.4(TUBGCP6):c.3732C>T (p.His1244=) rs140699312
NM_020461.4(TUBGCP6):c.4317C>A (p.Ser1439=) rs79022493

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