ClinVar Miner

List of variants in gene UBIAD1 studied for Schnyder corneal dystrophy

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 91
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_013319.3(UBIAD1):c.*904T>C rs3765906 0.16890
NM_013319.3(UBIAD1):c.*1304C>T rs17036631 0.09921
NM_013319.3(UBIAD1):c.*1532C>T rs77270119 0.07082
NM_013319.3(UBIAD1):c.-47T>G rs72856992 0.05898
NM_013319.3(UBIAD1):c.*148A>G rs11580061 0.02447
NM_013319.3(UBIAD1):c.*1060G>A rs115210853 0.01873
NM_013319.3(UBIAD1):c.*819G>A rs75287995 0.01442
NM_013319.3(UBIAD1):c.-195G>A rs114907127 0.00966
NM_013319.3(UBIAD1):c.224C>T (p.Ser75Phe) rs114000606 0.00811
NM_013319.3(UBIAD1):c.*1564C>T rs111893018 0.00446
NM_013319.3(UBIAD1):c.*552G>A rs111991610 0.00446
NM_013319.3(UBIAD1):c.*420C>T rs112789142 0.00444
NM_013319.3(UBIAD1):c.867C>T (p.Thr289=) rs113307594 0.00340
NM_013319.3(UBIAD1):c.*467G>A rs112285480 0.00235
NM_013319.3(UBIAD1):c.452A>G (p.Tyr151Cys) rs138443305 0.00176
NM_001330349.2(UBIAD1):c.618+2704C>T rs573522173 0.00172
NM_013319.3(UBIAD1):c.*18C>T rs191663672 0.00162
NM_013319.3(UBIAD1):c.*684C>A rs375520410 0.00151
NM_013319.3(UBIAD1):c.*612T>C rs886045071 0.00050
NM_013319.3(UBIAD1):c.*1189A>G rs776390306 0.00039
NM_013319.3(UBIAD1):c.298T>G (p.Leu100Val) rs140612649 0.00036
NM_013319.3(UBIAD1):c.837C>T (p.Cys279=) rs201111281 0.00035
NM_013319.3(UBIAD1):c.*1265T>A rs372234308 0.00034
NM_013319.3(UBIAD1):c.*295G>A rs904203949 0.00030
NM_013319.3(UBIAD1):c.*1535A>T rs536904644 0.00019
NM_013319.3(UBIAD1):c.*1010C>T rs886045075 0.00016
NM_013319.3(UBIAD1):c.*519G>A rs937500463 0.00016
NM_013319.3(UBIAD1):c.*1671G>A rs544393884 0.00014
NM_013319.3(UBIAD1):c.*239G>A rs766089759 0.00013
NM_013319.3(UBIAD1):c.*1506T>C rs896437124 0.00011
NM_013319.3(UBIAD1):c.*234C>T rs1057311020 0.00008
NM_013319.3(UBIAD1):c.*709C>T rs752647371 0.00008
NM_013319.3(UBIAD1):c.*1580C>T rs961079383 0.00007
NM_013319.3(UBIAD1):c.*1876G>A rs959093111 0.00006
NM_013319.3(UBIAD1):c.*531C>A rs550736303 0.00006
NM_013319.3(UBIAD1):c.*675A>G rs376227906 0.00006
NM_013319.3(UBIAD1):c.751C>A (p.Leu251Ile) rs780282620 0.00006
NM_013319.3(UBIAD1):c.*1565G>A rs1028565043 0.00004
NM_013319.3(UBIAD1):c.*2201C>A rs897434247 0.00004
NM_013319.3(UBIAD1):c.*465_*466del rs777958656 0.00004
NM_013319.3(UBIAD1):c.370C>A (p.Arg124=) rs748615089 0.00004
NM_013319.3(UBIAD1):c.417C>T (p.Tyr139=) rs377764711 0.00004
NM_013319.3(UBIAD1):c.*1495T>C rs886045080 0.00003
NM_013319.3(UBIAD1):c.*1719A>G rs886045082 0.00003
NM_013319.3(UBIAD1):c.*997C>T rs886045074 0.00003
NM_013319.3(UBIAD1):c.230G>A (p.Gly77Asp) rs201583978 0.00003
NM_013319.3(UBIAD1):c.*1167C>T rs886045076 0.00001
NM_013319.3(UBIAD1):c.*1228A>G rs917463872 0.00001
NM_013319.3(UBIAD1):c.*1426C>T rs886045077 0.00001
NM_013319.3(UBIAD1):c.*1427T>C rs886045078 0.00001
NM_013319.3(UBIAD1):c.*1459T>A rs886045079 0.00001
NM_013319.3(UBIAD1):c.*1494A>G rs868102858 0.00001
NM_013319.3(UBIAD1):c.*1570G>A rs955630598 0.00001
NM_013319.3(UBIAD1):c.*170T>G rs1399081788 0.00001
NM_013319.3(UBIAD1):c.*2091G>A rs1235983002 0.00001
NM_013319.3(UBIAD1):c.*2115C>G rs886045085 0.00001
NM_013319.3(UBIAD1):c.*2187G>A rs886045086 0.00001
NM_013319.3(UBIAD1):c.*2213C>T rs760259916 0.00001
NM_013319.3(UBIAD1):c.*619A>G rs886045072 0.00001
NM_013319.3(UBIAD1):c.*847A>T rs886045073 0.00001
NM_013319.3(UBIAD1):c.-4T>C rs770112579 0.00001
NM_013319.3(UBIAD1):c.116A>G (p.Gln39Arg) rs761963387 0.00001
NM_013319.3(UBIAD1):c.530G>A (p.Gly177Glu) rs397514669 0.00001
NM_013319.3(UBIAD1):c.60A>C (p.Lys20Asn) rs764215999 0.00001
NM_013319.3(UBIAD1):c.718G>A (p.Asp240Asn) rs371811409 0.00001
NM_013319.3(UBIAD1):c.740C>T (p.Thr247Met) rs371649705 0.00001
NM_013319.3(UBIAD1):c.*1586C>T rs886045081
NM_013319.3(UBIAD1):c.*1779C>T rs886045083
NM_013319.3(UBIAD1):c.*1810del rs781564164
NM_013319.3(UBIAD1):c.*1811G>C rs867059451
NM_013319.3(UBIAD1):c.*1817_*1820del rs371474267
NM_013319.3(UBIAD1):c.*221_*223del rs886045069
NM_013319.3(UBIAD1):c.*247T>C rs886045070
NM_013319.3(UBIAD1):c.*48A>G rs368504935
NM_013319.3(UBIAD1):c.*94G>A rs535726476
NM_013319.3(UBIAD1):c.*969_*970insTTTG rs3063961
NM_013319.3(UBIAD1):c.*990T>C rs1638286979
NM_013319.3(UBIAD1):c.191C>T (p.Pro64Leu) rs1651875842
NM_013319.3(UBIAD1):c.305A>G (p.Asn102Ser) rs118203945
NM_013319.3(UBIAD1):c.335A>G (p.Asp112Gly) rs118203950
NM_013319.3(UBIAD1):c.355A>G (p.Arg119Gly) rs118203947
NM_013319.3(UBIAD1):c.494T>G (p.Phe165Cys) rs886045058
NM_013319.3(UBIAD1):c.511T>C (p.Ser171Pro) rs118203951
NM_013319.3(UBIAD1):c.524C>T (p.Thr175Ile) rs118203948
NM_013319.3(UBIAD1):c.529G>C (p.Gly177Arg) rs118203946
NM_013319.3(UBIAD1):c.556G>A (p.Gly186Arg) rs118203952
NM_013319.3(UBIAD1):c.600G>A (p.Met200Ile) rs773070987
NM_013319.3(UBIAD1):c.695A>G (p.Asn232Ser) rs118203949
NM_013319.3(UBIAD1):c.708C>G (p.Asp236Glu) rs118203953
NM_013319.3(UBIAD1):c.711G>T (p.Met237Ile) rs776301691
NM_013319.3(UBIAD1):c.739A>G (p.Thr247Ala) rs1638253298

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.