ClinVar Miner

List of variants in gene combination C10orf105, CDH23 studied for Usher syndrome type 1

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Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.4051A>G (p.Asn1351Asp) rs1227065 0.79969
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala) rs41281314 0.04612
NM_022124.6(CDH23):c.3664G>A (p.Ala1222Thr) rs41281316 0.02047
NM_022124.6(CDH23):c.3619G>A (p.Val1207Met) rs111033488 0.01431
NM_022124.6(CDH23):c.3574G>A (p.Val1192Ile) rs80028391 0.00999
NM_022124.6(CDH23):c.3364T>G (p.Leu1122Val) rs77821631 0.00732
NM_022124.6(CDH23):c.3249G>A (p.Thr1083=) rs79805606 0.00698
NM_022124.6(CDH23):c.3999G>A (p.Val1333=) rs111033453 0.00516
NM_022124.6(CDH23):c.3845A>G (p.Asn1282Ser) rs149073355 0.00347
NM_022124.6(CDH23):c.4045C>T (p.Arg1349Cys) rs41281318 0.00285
NM_022124.6(CDH23):c.3293A>G (p.Asn1098Ser) rs41281310 0.00258
NM_022124.6(CDH23):c.4068C>G (p.Thr1356=) rs143136329 0.00226
NM_022124.6(CDH23):c.3801C>T (p.Thr1267=) rs56107171 0.00193
NM_022124.6(CDH23):c.3361A>T (p.Ile1121Phe) rs200542052 0.00124
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.4095C>T (p.Asp1365=) rs368582818 0.00028
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.3431-6A>T rs377614198 0.00018
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.3352G>A (p.Gly1118Ser) rs562052236 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.3924C>T (p.Asp1308=) rs776501112 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.4011C>A (p.Ala1337=) rs761003107 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.4105-2A>T rs1416386069 0.00001
NM_022124.6(CDH23):c.4116A>G (p.Thr1372=) rs369188108 0.00001
NM_022124.6(CDH23):c.4206+1G>A rs1204500829 0.00001
NM_022124.6(CDH23):c.3241C>T (p.Arg1081Ter) rs866435331
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.4021G>A (p.Asp1341Asn) rs121908351
NM_022124.6(CDH23):c.4041G>C (p.Thr1347=) rs373634236
NM_022124.6(CDH23):c.4190A>G (p.Lys1397Arg) rs1438134577

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