ClinVar Miner

List of variants in gene CDH23 reported as uncertain significance for Retinal dystrophy

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr) rs143282422 0.00680
NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp) rs111033457 0.00106
NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys) rs370074117 0.00031
NM_022124.6(CDH23):c.1595C>T (p.Thr532Met) rs201297042 0.00023
NM_022124.6(CDH23):c.9326G>A (p.Arg3109His) rs200188029 0.00019
NM_022124.6(CDH23):c.9928C>T (p.Arg3310Cys) rs200124827 0.00018
NM_022124.6(CDH23):c.2926A>G (p.Ser976Gly) rs372401651 0.00016
NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val) rs200635365 0.00014
NM_022124.6(CDH23):c.1672G>A (p.Val558Met) rs780661396 0.00011
NM_022124.6(CDH23):c.7552G>A (p.Val2518Met) rs376617494 0.00011
NM_022124.6(CDH23):c.1213G>A (p.Val405Ile) rs370549448 0.00009
NM_022124.6(CDH23):c.2551G>A (p.Glu851Lys) rs771795434 0.00006
NM_022124.6(CDH23):c.6050-15G>A rs373838930 0.00006
NM_022124.6(CDH23):c.8426G>A (p.Arg2809His) rs780409612 0.00006
NM_022124.6(CDH23):c.7838G>A (p.Arg2613His) rs768688999 0.00005
NM_022124.6(CDH23):c.8065-5C>A rs561693723 0.00005
NM_022124.6(CDH23):c.269G>A (p.Arg90Gln) rs397517317 0.00004
NM_022124.6(CDH23):c.2915C>T (p.Thr972Met) rs762772276 0.00003
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.2117A>G (p.Gln706Arg) rs868733212 0.00002
NM_022124.6(CDH23):c.2159G>A (p.Arg720Gln) rs768074758 0.00002
NM_022124.6(CDH23):c.2398-1G>T rs751788879 0.00001
NM_022124.6(CDH23):c.9094G>A (p.Asp3032Asn) rs368603948 0.00001
NM_022124.6(CDH23):c.9943C>G (p.Leu3315Val) rs1442206473 0.00001
NM_022124.6(CDH23):c.1601T>C (p.Ile534Thr)
NM_022124.6(CDH23):c.2078T>C (p.Leu693Pro)
NM_022124.6(CDH23):c.2743A>G (p.Ile915Val)
NM_022124.6(CDH23):c.3055T>C (p.Cys1019Arg)
NM_022124.6(CDH23):c.4511C>T (p.Thr1504Ile)
NM_022124.6(CDH23):c.4657A>G (p.Thr1553Ala)
NM_022124.6(CDH23):c.5048T>C (p.Phe1683Ser)
NM_022124.6(CDH23):c.6169A>G (p.Ile2057Val) rs573057228
NM_022124.6(CDH23):c.6343C>T (p.Arg2115Cys) rs375329233
NM_022124.6(CDH23):c.7072C>T (p.Arg2358Trp)
NM_022124.6(CDH23):c.7485G>A (p.Val2495=)
NM_022124.6(CDH23):c.817T>C (p.Tyr273His)
NM_022124.6(CDH23):c.8322GAA[1] (p.Lys2775del) rs876657758
NM_022124.6(CDH23):c.8559A>C (p.Ala2853=)
NM_022124.6(CDH23):c.960C>A (p.Asn320Lys)

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