ClinVar Miner

List of variants studied for Oguchi disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 48
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000541.5(SAG):c.1207G>A (p.Val403Ile) rs1046974 0.30851
NM_000541.5(SAG):c.489C>T (p.Ala163=) rs2304773 0.13074
NM_000541.5(SAG):c.1208T>C (p.Val403Ala) rs1046976 0.12771
NM_000541.5(SAG):c.226A>G (p.Ile76Val) rs7565275 0.06304
NM_000541.5(SAG):c.1047-13T>C rs73995909 0.03685
NM_000541.5(SAG):c.375+11C>T rs74356516 0.03568
NM_000541.5(SAG):c.321G>C (p.Leu107=) rs59676190 0.03222
NM_000541.5(SAG):c.201C>T (p.Cys67=) rs72976383 0.02235
NM_000541.5(SAG):c.*7C>T rs692 0.02006
NM_000541.5(SAG):c.*89C>T rs78338185 0.01526
NM_000541.5(SAG):c.93G>A (p.Gly31=) rs79063407 0.00807
NM_000541.5(SAG):c.1091C>T (p.Pro364Leu) rs112613526 0.00622
NM_000541.5(SAG):c.250C>T (p.Arg84Cys) rs115857633 0.00530
NM_000541.5(SAG):c.231C>T (p.Asp77=) rs79922016 0.00524
NM_000541.5(SAG):c.301G>A (p.Ala101Thr) rs141521563 0.00492
NM_000541.5(SAG):c.-69G>A rs189763324 0.00397
NM_000541.5(SAG):c.525A>G (p.Arg175=) rs199839554 0.00285
NM_000541.5(SAG):c.588G>A (p.Ala196=) rs190853693 0.00217
NM_000541.5(SAG):c.-223C>G rs140569105 0.00170
NM_000541.5(SAG):c.420A>G (p.Pro140=) rs150046934 0.00141
NM_000541.5(SAG):c.31G>A (p.Glu11Lys) rs200078242 0.00129
NM_000541.5(SAG):c.*98G>A rs184255686 0.00048
NM_000541.5(SAG):c.473C>A (p.Thr158Lys) rs199537652 0.00034
NM_000541.5(SAG):c.1054G>A (p.Ala352Thr) rs201307508 0.00029
NM_000541.5(SAG):c.1167T>A (p.Asp389Glu) rs199798289 0.00019
NM_000541.5(SAG):c.1132G>A (p.Val378Ile) rs200602069 0.00018
NM_000541.5(SAG):c.453T>G (p.Phe151Leu) rs770558895 0.00014
NM_000541.5(SAG):c.866C>T (p.Ala289Val) rs373460295 0.00009
NM_000541.5(SAG):c.298G>A (p.Ala100Thr) rs771117432 0.00008
NM_000541.5(SAG):c.944+5G>A rs374048703 0.00007
NM_000541.5(SAG):c.468C>T (p.Phe156=) rs375593027 0.00006
NM_000541.5(SAG):c.838A>G (p.Lys280Glu) rs373986650 0.00006
NM_000541.4(SAG):c.-331G>T rs752812406 0.00005
NM_000541.5(SAG):c.*113C>T rs1055247940 0.00005
NM_000541.5(SAG):c.154G>C (p.Asp52His) rs200296556 0.00005
NM_000541.5(SAG):c.269C>G (p.Ser90Cys) rs531041701 0.00003
NM_000541.5(SAG):c.*20C>T rs756466617 0.00002
NM_000541.5(SAG):c.777C>T (p.Tyr259=) rs766104513 0.00002
NM_000541.5(SAG):c.820C>T (p.Pro274Ser) rs369789189 0.00002
NM_000541.5(SAG):c.875G>A (p.Arg292Gln) rs554322769 0.00002
NM_000541.5(SAG):c.-11G>A rs754551985 0.00001
NM_000541.5(SAG):c.-28-10A>G rs1462642188 0.00001
NM_000541.5(SAG):c.208C>T (p.Arg70Cys) rs777934036 0.00001
NM_000541.5(SAG):c.75+7G>T rs753990994 0.00001
NM_000541.5(SAG):c.778G>A (p.Val260Ile) rs1443433091 0.00001
NM_000541.4(SAG):c.-278A>G rs886055799
NM_000541.5(SAG):c.*90G>A rs143418950
NM_000541.5(SAG):c.793A>G (p.Met265Val) rs781755716

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.