ClinVar Miner

List of variants in gene combination C10orf105, CDH23 reported as uncertain significance for Usher syndrome type 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 54
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.3927G>A (p.Glu1309=) rs115398922 0.00057
NM_022124.6(CDH23):c.3230C>T (p.Pro1077Leu) rs202101019 0.00044
NM_022124.6(CDH23):c.3986G>A (p.Gly1329Asp) rs201877610 0.00026
NM_022124.6(CDH23):c.3707G>A (p.Arg1236Gln) rs186990940 0.00020
NM_022124.6(CDH23):c.4040C>T (p.Thr1347Met) rs371125497 0.00019
NM_022124.6(CDH23):c.4000C>T (p.Arg1334Trp) rs373276722 0.00016
NM_022124.6(CDH23):c.3452G>A (p.Arg1151Gln) rs370944611 0.00014
NM_022124.6(CDH23):c.3869C>T (p.Pro1290Leu) rs377222292 0.00014
NM_022124.6(CDH23):c.3764A>T (p.Lys1255Met) rs372158876 0.00010
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met) rs200632520 0.00009
NM_022124.6(CDH23):c.3397G>A (p.Glu1133Lys) rs111033509 0.00008
NM_022124.6(CDH23):c.3802G>A (p.Val1268Met) rs201884261 0.00006
NM_022124.6(CDH23):c.4136G>A (p.Arg1379His) rs767004225 0.00006
NM_022124.6(CDH23):c.3248C>T (p.Thr1083Met) rs756165682 0.00005
NM_022124.6(CDH23):c.3550G>A (p.Asp1184Asn) rs397517325 0.00003
NM_022124.6(CDH23):c.3592G>A (p.Val1198Met) rs774804095 0.00003
NM_022124.6(CDH23):c.3739C>T (p.Arg1247Cys) rs202204597 0.00003
NM_022124.6(CDH23):c.3847G>A (p.Val1283Met) rs758413650 0.00003
NM_022124.6(CDH23):c.4206+5G>A rs768842900 0.00003
NM_022124.6(CDH23):c.3482G>A (p.Arg1161Gln) rs747849852 0.00002
NM_022124.6(CDH23):c.3523G>A (p.Val1175Met) rs763379895 0.00002
NM_022124.6(CDH23):c.3695A>G (p.Gln1232Arg) rs776158881 0.00002
NM_022124.6(CDH23):c.3730G>A (p.Val1244Met) rs1478583640 0.00002
NM_022124.6(CDH23):c.4046G>A (p.Arg1349His) rs768452198 0.00002
NM_022124.6(CDH23):c.4054G>A (p.Ala1352Thr) rs773262846 0.00002
NM_022124.6(CDH23):c.4146C>T (p.Gly1382=) rs201008425 0.00002
NM_022124.6(CDH23):c.3221-7C>T rs776427467 0.00001
NM_022124.6(CDH23):c.3305T>A (p.Phe1102Tyr) rs369002480 0.00001
NM_022124.6(CDH23):c.3328A>G (p.Ser1110Gly) rs757508152 0.00001
NM_022124.6(CDH23):c.3337G>C (p.Glu1113Gln) rs397517322 0.00001
NM_022124.6(CDH23):c.3445A>G (p.Asn1149Asp) rs754128851 0.00001
NM_022124.6(CDH23):c.3467A>G (p.Asn1156Ser) rs375367387 0.00001
NM_022124.6(CDH23):c.3491G>A (p.Arg1164Gln) rs760170584 0.00001
NM_022124.6(CDH23):c.3493C>T (p.Pro1165Ser) rs373622821 0.00001
NM_022124.6(CDH23):c.3503G>A (p.Arg1168Gln) rs727502925 0.00001
NM_022124.6(CDH23):c.3522C>T (p.His1174=) rs750705577 0.00001
NM_022124.6(CDH23):c.3579+3G>A rs761976651 0.00001
NM_022124.6(CDH23):c.3820G>A (p.Glu1274Lys) rs775540526 0.00001
NM_022124.6(CDH23):c.3925G>A (p.Glu1309Lys) rs111033468 0.00001
NM_022124.6(CDH23):c.4070A>G (p.Gln1357Arg) rs1038949759 0.00001
NM_022124.6(CDH23):c.4096G>A (p.Ala1366Thr) rs1166886985 0.00001
NM_022124.6(CDH23):c.4116A>G (p.Thr1372=) rs369188108 0.00001
NM_022124.6(CDH23):c.3250G>T (p.Gly1084Cys) rs1064794520
NM_022124.6(CDH23):c.3330C>G (p.Ser1110Arg) rs371962929
NM_022124.6(CDH23):c.3351A>G (p.Glu1117=) rs1866031274
NM_022124.6(CDH23):c.3468T>G (p.Asn1156Lys) rs751046027
NM_022124.6(CDH23):c.3508C>T (p.Arg1170Trp) rs199866703
NM_022124.6(CDH23):c.3523G>T (p.Val1175Leu) rs763379895
NM_022124.6(CDH23):c.3688G>A (p.Val1230Met) rs377358096
NM_022124.6(CDH23):c.3712T>G (p.Ser1238Ala) rs764805425
NM_022124.6(CDH23):c.3972G>A (p.Glu1324=) rs1839415432
NM_022124.6(CDH23):c.4004T>C (p.Val1335Ala) rs1364542092
NM_022124.6(CDH23):c.4041G>C (p.Thr1347=) rs373634236
NM_022124.6(CDH23):c.4190A>G (p.Lys1397Arg) rs1438134577

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.