ClinVar Miner

List of variants reported as likely benign for Stargardt disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_019098.5(CNGB3):c.595G>A (p.Glu199Lys) rs114305748 0.01886
NM_019098.5(CNGB3):c.80A>G (p.Asn27Ser) rs35807406 0.01728
NM_019098.5(CNGB3):c.1626C>T (p.Ser542=) rs35903042 0.00786
NM_019098.5(CNGB3):c.*621G>A rs116835980 0.00669
NM_019098.5(CNGB3):c.212-3T>C rs79126074 0.00635
NM_006017.3(PROM1):c.1345G>A (p.Val449Met) rs200620291 0.00152
NM_006017.3(PROM1):c.2211+7C>T rs372262346 0.00150
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln) rs147876778 0.00119
NM_022726.4(ELOVL4):c.-103G>C rs530801492 0.00096
NM_022726.4(ELOVL4):c.*40A>C rs185190995 0.00091
NM_006017.3(PROM1):c.714A>G (p.Gly238=) rs201662148 0.00088
NM_022726.4(ELOVL4):c.699G>A (p.Thr233=) rs17853840 0.00073
NM_006017.3(PROM1):c.1491G>T (p.Leu497Phe) rs200520976 0.00070
NM_006017.3(PROM1):c.1928C>G (p.Ala643Gly) rs62617075 0.00065
NM_006017.3(PROM1):c.2284A>G (p.Ser762Gly) rs202029748 0.00058
NM_019098.5(CNGB3):c.319G>A (p.Gly107Arg) rs146688972 0.00057
NM_006017.3(PROM1):c.2112C>T (p.Arg704=) rs375358457 0.00036
NM_006017.3(PROM1):c.1911+8G>A rs370302107 0.00033
NM_022726.4(ELOVL4):c.351T>A (p.Asn117Lys) rs148018494 0.00031
NM_006017.3(PROM1):c.963G>T (p.Leu321Phe) rs202041422 0.00026
NM_006017.3(PROM1):c.2271C>T (p.Ile757=) rs375986111 0.00022
NM_006017.3(PROM1):c.843C>T (p.His281=) rs374394451 0.00019
NM_019098.5(CNGB3):c.*997A>G rs141428300 0.00014
NM_006017.3(PROM1):c.376G>A (p.Val126Met) rs199556426 0.00009
NM_022726.4(ELOVL4):c.311C>T (p.Ala104Val) rs200915130 0.00008
NM_006017.3(PROM1):c.1152G>C (p.Arg384Ser) rs201748228 0.00005
NM_006017.3(PROM1):c.2582+9A>C rs200033458 0.00005
NM_006017.3(PROM1):c.1195C>T (p.Arg399Cys) rs770268627 0.00004
NM_006017.3(PROM1):c.1199T>C (p.Leu400Pro) rs140682455 0.00004
NM_006017.3(PROM1):c.1407G>A (p.Pro469=) rs763710252 0.00004
NM_006017.3(PROM1):c.2364C>T (p.Ile788=) rs551849678 0.00004
NM_006017.3(PROM1):c.1301+10T>A rs192338518 0.00003
NM_006017.3(PROM1):c.1301+11C>A rs189953160 0.00003
NM_006017.3(PROM1):c.276+15G>T rs766012920 0.00003
NM_006017.3(PROM1):c.1377C>T (p.Gly459=) rs779072238 0.00002
NM_006017.3(PROM1):c.1468A>T (p.Ser490Cys) rs536622788 0.00002
NM_006017.3(PROM1):c.2578A>G (p.Thr860Ala) rs747844753 0.00002
NM_006017.3(PROM1):c.1710C>T (p.Tyr570=) rs201644238 0.00001
NM_006017.3(PROM1):c.1738A>C (p.Asn580His) rs199674847 0.00001
NM_006017.3(PROM1):c.2309C>A (p.Pro770His) rs568361529 0.00001
NM_006017.3(PROM1):c.158G>A (p.Gly53Asp) rs755064227
NM_006017.3(PROM1):c.2094C>A (p.Ser698Arg) rs199727800
NM_022726.4(ELOVL4):c.-252G>A rs539142746

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