ClinVar Miner

List of variants reported as benign for Stargardt disease

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.141A>G (p.Pro47=) rs4847281 0.98746
NM_019098.5(CNGB3):c.702T>G (p.Cys234Trp) rs6471482 0.88912
NM_000350.3(ABCA4):c.6069T>C (p.Ile2023=) rs1762114 0.78856
NM_000350.3(ABCA4):c.5585-70C>T rs537831 0.65778
NM_019098.5(CNGB3):c.892A>C (p.Thr298Pro) rs4961206 0.64246
NM_000350.3(ABCA4):c.4773+48C>T rs472908 0.62724
NM_019098.4(CNGB3):c.*1639C>A rs990192 0.58635
NM_000350.3(ABCA4):c.4128+156C>T rs4147841 0.56024
NM_006017.3(PROM1):c.*1078A>G rs3130 0.53265
NM_000350.3(ABCA4):c.302+26A>G rs2297634 0.48752
NM_000350.3(ABCA4):c.1240-14C>T rs4147830 0.47169
NM_006017.3(PROM1):c.303+6G>A rs2078622 0.39397
NM_006017.3(PROM1):c.2374-6T>C rs6449209 0.34571
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=) rs1801574 0.23813
NM_006017.3(PROM1):c.2582+43C>T rs11725522 0.22440
NM_006017.3(PROM1):c.*667A>C rs2240688 0.21643
NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=) rs4147857 0.20473
NM_000350.3(ABCA4):c.5715-25A>C rs4147856 0.20432
NM_006017.3(PROM1):c.2281-6C>G rs3815344 0.20394
NM_000350.3(ABCA4):c.5836-11G>A rs1800739 0.20309
NM_000350.3(ABCA4):c.5836-43C>A rs2275031 0.19847
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=) rs2275029 0.19626
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile) rs6666652 0.17582
NM_022726.4(ELOVL4):c.895A>G (p.Met299Val) rs3812153 0.15428
NM_022726.4(ELOVL4):c.*142G>C rs1512118 0.15383
NM_022726.4(ELOVL4):c.*667T>C rs16891260 0.15372
NM_000350.3(ABCA4):c.6730-3T>C rs1800717 0.15096
NM_022726.4(ELOVL4):c.-236C>T rs240307 0.14804
NM_022726.4(ELOVL4):c.*1669T>G rs2991 0.14296
NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=) rs1801359 0.13311
NM_000350.3(ABCA4):c.6282+7G>A rs17110761 0.13306
NM_019098.4(CNGB3):c.*1638G>A rs28471019 0.09998
NM_006017.3(PROM1):c.1003-35A>C rs2286458 0.09908
NM_006017.3(PROM1):c.786G>A (p.Ala262=) rs2286455 0.09727
NM_006017.3(PROM1):c.129C>T (p.Thr43=) rs10033086 0.09038
NM_019098.5(CNGB3):c.2264A>G (p.Glu755Gly) rs3735972 0.08214
NM_019098.5(CNGB3):c.2214A>G (p.Glu738=) rs3735970 0.08211
NM_006017.3(PROM1):c.15C>T (p.Leu5=) rs10033189 0.06194
NM_019098.5(CNGB3):c.919A>G (p.Ile307Val) rs13265557 0.05793
NM_019098.5(CNGB3):c.1356G>A (p.Gln452=) rs34839859 0.05572
NM_019098.5(CNGB3):c.608G>A (p.Arg203Gln) rs16916632 0.05057
NM_019098.5(CNGB3):c.1781+10A>T rs7000747 0.05032
NM_019098.5(CNGB3):c.211+13T>G rs66881636 0.04794
NM_006017.3(PROM1):c.1983+14G>A rs4698436 0.04259
NM_006017.3(PROM1):c.228G>A (p.Leu76=) rs76963591 0.03578
NM_006017.3(PROM1):c.1768-5C>T rs55708318 0.03551
NM_022726.4(ELOVL4):c.*361C>T rs41270557 0.03380
NM_022726.4(ELOVL4):c.*609G>A rs41270555 0.03374
NM_022726.4(ELOVL4):c.*1066T>G rs45594338 0.03371
NM_022726.4(ELOVL4):c.*1551A>G rs55808788 0.02617
NM_019098.5(CNGB3):c.*778T>C rs16915859 0.01933
NM_019098.5(CNGB3):c.*389A>C rs16915861 0.01929
NM_006017.3(PROM1):c.631-14T>C rs16892824 0.01810
NM_019098.5(CNGB3):c.354G>T (p.Pro118=) rs75858066 0.01037
NM_019098.5(CNGB3):c.1397T>C (p.Met466Thr) rs35010099 0.00978
NM_022726.4(ELOVL4):c.814G>C (p.Glu272Gln) rs148919174 0.00936
NM_006017.3(PROM1):c.55T>G (p.Ser19Ala) rs189108830 0.00928
NM_022726.4(ELOVL4):c.800T>C (p.Ile267Thr) rs148594713 0.00636
NM_006017.3(PROM1):c.1751A>G (p.His584Arg) rs140027620 0.00608
NM_006017.3(PROM1):c.1911+14G>A rs79077926 0.00565
NM_006017.3(PROM1):c.1683-3C>T rs143470288 0.00518
NM_006017.3(PROM1):c.*684C>T rs140362696 0.00496
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met) rs61749417 0.00491
NM_022726.4(ELOVL4):c.*509C>T rs149410136 0.00424
NM_022726.4(ELOVL4):c.*8T>C rs144822141 0.00421
NM_022726.4(ELOVL4):c.-98C>T rs562763990 0.00344
NM_022726.4(ELOVL4):c.-268T>G rs546271509 0.00343
NM_000350.3(ABCA4):c.1878G>A (p.Ala626=) rs61754023 0.00324
NM_006017.3(PROM1):c.1497C>T (p.Ile499=) rs113895168 0.00322
NM_006017.3(PROM1):c.1977C>T (p.Asn659=) rs149028760 0.00222
NM_006017.3(PROM1):c.-25T>A rs149845694 0.00194
NM_006017.3(PROM1):c.1579-6T>C rs181261277 0.00190
NM_022726.4(ELOVL4):c.*1050A>G rs114429396 0.00158
NM_006017.3(PROM1):c.868A>C (p.Ser290Arg) rs182096110 0.00128
NM_019098.5(CNGB3):c.494-11T>C rs543970676 0.00062
NM_022726.4(ELOVL4):c.*377T>A rs77249894 0.00027
NM_006017.3(PROM1):c.678G>A (p.Ala226=) rs187116049 0.00020
NM_006017.3(PROM1):c.2485G>A (p.Asp829Asn) rs146434364 0.00010
NM_000350.3(ABCA4):c.1294G>A (p.Glu432Lys) rs201117452 0.00005
NM_006017.3(PROM1):c.*1052G>A rs577484119 0.00004
NM_000350.3(ABCA4):c.1240-65del rs3215952
NM_000350.3(ABCA4):c.4352+54A>G rs547806
NM_000350.3(ABCA4):c.4774-17_4774-16del rs55860151
NM_000350.3(ABCA4):c.6006-16G>A rs4147863
NM_019098.4(CNGB3):c.-36T>G rs7812496
NM_019098.5(CNGB3):c.*1303G>A rs17683284
NM_019098.5(CNGB3):c.*735A>G rs73269601
NM_019098.5(CNGB3):c.*915G>C rs189446254
NM_022726.4(ELOVL4):c.*360A>G rs537318852
NM_022726.4(ELOVL4):c.-90G>C rs62407622

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