ClinVar Miner

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

Included ClinVar conditions (15):
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Gene type:
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Total variants: 41
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HGVS dbSNP
NM_022124.6(CDH23):c.3249G>A (p.Thr1083=) rs79805606
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met) rs200632520
NM_022124.6(CDH23):c.3301A>G (p.Ile1101Val) rs199510686
NM_022124.6(CDH23):c.3328A>G (p.Ser1110Gly) rs757508152
NM_022124.6(CDH23):c.3331G>A (p.Val1111Ile) rs397517321
NM_022124.6(CDH23):c.3364T>G (p.Leu1122Val) rs77821631
NM_022124.6(CDH23):c.3369+12G>A rs187975106
NM_022124.6(CDH23):c.3407G>A (p.Arg1136His)
NM_022124.6(CDH23):c.3428dup (p.His1143fs) rs1253419936
NM_022124.6(CDH23):c.3480G>T (p.Met1160Ile) rs111033519
NM_022124.6(CDH23):c.3547C>A (p.His1183Asn)
NM_022124.6(CDH23):c.3574G>A (p.Val1192Ile) rs80028391
NM_022124.6(CDH23):c.3580-12C>T rs73275848
NM_022124.6(CDH23):c.3580-13C>T rs150894638
NM_022124.6(CDH23):c.3613G>T (p.Ala1205Ser) rs886047134
NM_022124.6(CDH23):c.3614C>T (p.Ala1205Val) rs886047135
NM_022124.6(CDH23):c.3619G>A (p.Val1207Met) rs111033488
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala) rs41281314
NM_022124.6(CDH23):c.3664G>A (p.Ala1222Thr) rs41281316
NM_022124.6(CDH23):c.3678G>A (p.Thr1226=)
NM_022124.6(CDH23):c.3739C>T (p.Arg1247Cys) rs202204597
NM_022124.6(CDH23):c.3801C>T (p.Thr1267=) rs56107171
NM_022124.6(CDH23):c.3839_3841TGA[1] (p.Met1281del) rs796051860
NM_022124.6(CDH23):c.3845A>G (p.Asn1282Ser) rs149073355
NM_022124.6(CDH23):c.3852G>A (p.Ser1284=) rs372172457
NM_022124.6(CDH23):c.3880C>T (p.Gln1294Ter) rs121908350
NM_022124.6(CDH23):c.3895G>A (p.Val1299Ile) rs201610096
NM_022124.6(CDH23):c.3915C>T (p.Asn1305=) rs568924674
NM_022124.6(CDH23):c.3929C>A (p.Ala1310Asp) rs483353051
NM_022124.6(CDH23):c.3986G>A (p.Gly1329Asp) rs201877610
NM_022124.6(CDH23):c.3999G>A (p.Val1333=) rs111033453
NM_022124.6(CDH23):c.4000C>T (p.Arg1334Trp) rs373276722
NM_022124.6(CDH23):c.4005C>G (p.Val1335=) rs886047136
NM_022124.6(CDH23):c.4045C>T (p.Arg1349Cys) rs41281318
NM_022124.6(CDH23):c.4051A>G (p.Asn1351Asp) rs1227065
NM_022124.6(CDH23):c.4068C>G (p.Thr1356=) rs143136329
NM_022124.6(CDH23):c.4103C>T (p.Thr1368Met) rs762247872
NM_022124.6(CDH23):c.4104+4A>T rs483353052
NM_022124.6(CDH23):c.4105-2A>T
NM_022124.6(CDH23):c.4179C>T (p.Asp1393=) rs571668370
NM_022124.6(CDH23):c.4203C>T (p.Thr1401=) rs202166096

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