ClinVar Miner

List of variants in gene CDH23 reported as likely pathogenic for Usher syndrome type 1

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn) rs188376296
NM_022124.6(CDH23):c.2410G>A (p.Asp804Asn) rs1554857840
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys) rs745571683
NM_022124.6(CDH23):c.3176A>T (p.Asp1059Val)
NM_022124.6(CDH23):c.3178C>T (p.Arg1060Trp) rs201536811
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser) rs183431253
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=) rs370983472
NM_022124.6(CDH23):c.8378G>A (p.Arg2793Gln) rs547034667
NM_022124.6(CDH23):c.9127C>T (p.Arg3043Trp) rs375907609

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