ClinVar Miner

List of variants in gene CDH23 reported as uncertain significance for retinal disorder

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.6050-15G>A rs373838930 0.00006
NM_022124.6(CDH23):c.8065-5C>A rs561693723 0.00005
NM_022124.6(CDH23):c.5989G>A (p.Val1997Met) rs755121910 0.00004
NM_022124.6(CDH23):c.6334G>A (p.Ala2112Thr) rs371928601 0.00003
NM_022124.6(CDH23):c.8497C>T (p.Arg2833Cys) rs760130862 0.00003
NM_022124.6(CDH23):c.2398-1G>T rs751788879 0.00001
NM_022124.6(CDH23):c.2767G>A (p.Gly923Ser) rs560251790 0.00001
NM_022124.6(CDH23):c.9094G>A (p.Asp3032Asn) rs368603948 0.00001
NM_022124.6(CDH23):c.6343C>T (p.Arg2115Cys) rs375329233
NM_022124.6(CDH23):c.7241A>T (p.Asp2414Val) rs1589428738
NM_022124.6(CDH23):c.8322GAA[1] (p.Lys2775del) rs876657758

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