ClinVar Miner

List of variants in gene ZNF513 studied for retinal disorder

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 40
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_144631.6(ZNF513):c.1164C>T (p.Phe388=) rs61735110 0.02326
NM_144631.6(ZNF513):c.694C>T (p.Pro232Ser) rs116121798 0.01149
NM_144631.6(ZNF513):c.1224C>T (p.Arg408=) rs61995753 0.01045
NM_144631.6(ZNF513):c.1260C>T (p.Leu420=) rs112828880 0.00620
NM_144631.6(ZNF513):c.878G>A (p.Arg293Gln) rs61740138 0.00591
NM_144631.6(ZNF513):c.781G>A (p.Val261Met) rs61742428 0.00214
NM_144631.6(ZNF513):c.290C>T (p.Ala97Val) rs35554630 0.00163
NM_144631.6(ZNF513):c.395G>C (p.Cys132Ser) rs184500376 0.00122
NM_144631.6(ZNF513):c.749G>A (p.Arg250Gln) rs141337532 0.00115
NM_144631.6(ZNF513):c.1488C>T (p.His496=) rs146066701 0.00045
NM_144631.6(ZNF513):c.519C>T (p.Ser173=) rs199520071 0.00035
NM_144631.6(ZNF513):c.1568G>A (p.Arg523Gln) rs371030335 0.00024
NM_144631.6(ZNF513):c.950G>A (p.Arg317Gln) rs201047611 0.00016
NM_144631.6(ZNF513):c.984T>A (p.Gly328=) rs369469017 0.00014
NM_144631.6(ZNF513):c.1601G>A (p.Arg534Gln) rs149397849 0.00008
NM_144631.6(ZNF513):c.619C>T (p.Arg207Cys) rs140620118 0.00007
NM_144631.6(ZNF513):c.1188C>T (p.Ala396=) rs199625496 0.00006
NM_144631.6(ZNF513):c.1015T>C (p.Cys339Arg) rs267607182 0.00005
NM_144631.6(ZNF513):c.1225G>A (p.Val409Ile) rs371898387 0.00005
NM_144631.6(ZNF513):c.537C>T (p.Arg179=) rs374192541 0.00004
NM_144631.6(ZNF513):c.740G>A (p.Arg247Gln) rs139008988 0.00004
NM_144631.6(ZNF513):c.-188G>A rs1298142054 0.00001
NM_144631.6(ZNF513):c.1527C>T (p.Gly509=) rs758258701 0.00001
NM_144631.6(ZNF513):c.219T>C (p.Ser73=) rs148351779 0.00001
NM_144631.6(ZNF513):c.780G>A (p.Ala260=) rs554115332 0.00001
NM_144631.6(ZNF513):c.900C>T (p.Cys300=) rs367962941 0.00001
NM_144631.6(ZNF513):c.1022G>A (p.Arg341Gln)
NM_144631.6(ZNF513):c.1098C>T (p.Pro366=)
NM_144631.6(ZNF513):c.147A>G (p.Glu49=)
NM_144631.6(ZNF513):c.1578A>G (p.Pro526=)
NM_144631.6(ZNF513):c.240T>A (p.Leu80=) rs368015447
NM_144631.6(ZNF513):c.279_283del (p.Ala94fs) rs1683490120
NM_144631.6(ZNF513):c.374G>A (p.Gly125Glu)
NM_144631.6(ZNF513):c.377C>T (p.Pro126Leu) rs776689084
NM_144631.6(ZNF513):c.523G>C (p.Glu175Gln) rs1683475247
NM_144631.6(ZNF513):c.537C>A (p.Arg179=)
NM_144631.6(ZNF513):c.556G>A (p.Ala186Thr) rs886055908
NM_144631.6(ZNF513):c.605G>T (p.Gly202Val) rs886055907
NM_144631.6(ZNF513):c.719G>A (p.Gly240Asp)
NM_144631.6(ZNF513):c.739C>G (p.Arg247Gly) rs779441909

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.