ClinVar Miner

List of variants reported as uncertain significance for Usher syndrome type 1 by Ocular Genomics Institute, Massachusetts Eye and Ear

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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NM_022124.6(CDH23):c.1919C>T (p.Thr640Met) rs199796910
NM_022124.6(CDH23):c.2236G>A (p.Val746Ile) rs550384315
NM_022124.6(CDH23):c.2525G>A (p.Arg842Gln)
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met) rs200632520
NM_022124.6(CDH23):c.4520G>A (p.Arg1507Gln)
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser) rs183431253
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln) rs201434373
NM_022124.6(CDH23):c.7393C>T (p.Arg2465Trp)
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174
NM_022124.6(CDH23):c.8693C>A (p.Ser2898Tyr)
NM_022124.6(CDH23):c.901C>T (p.Arg301Trp) rs397517364

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