ClinVar Miner

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

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_022124.5(CDH23):c.3262G>A (p.Val1088Met) rs200632520
NM_022124.5(CDH23):c.3428dup (p.His1143Glnfs)
NM_022124.5(CDH23):c.3481C>T (p.Arg1161Ter) rs397517323
NM_022124.5(CDH23):c.3628C>T (p.Gln1210Ter) rs397517326
NM_022124.5(CDH23):c.3706C>T (p.Arg1236Ter) rs397517327
NM_022124.5(CDH23):c.3739C>T (p.Arg1247Cys) rs202204597
NM_022124.5(CDH23):c.3842_3844del (p.Met1281del) rs796051860
NM_022124.5(CDH23):c.3880C>T (p.Gln1294Ter) rs121908350
NM_022124.5(CDH23):c.3929C>A (p.Ala1310Asp) rs483353051
NM_022124.5(CDH23):c.3986G>A (p.Gly1329Asp) rs201877610
NM_022124.5(CDH23):c.4000C>T (p.Arg1334Trp) rs373276722
NM_022124.5(CDH23):c.4104+4A>T rs483353052
NM_022124.5:c.(?_3716)_(4146_?)del
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala) rs41281314

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