ClinVar Miner

List of variants in gene CDH23 studied for Rare genetic deafness

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174 0.00059
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln) rs111033270 0.00016
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn) rs111033271 0.00010
NM_022124.6(CDH23):c.6050-9G>A rs367928692 0.00006
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=) rs370983472 0.00006
NM_022124.6(CDH23):c.4309C>T (p.Arg1437Ter) rs397517329 0.00004
NM_022124.6(CDH23):c.1369C>T (p.Arg457Trp) rs727504455 0.00001
NM_022124.6(CDH23):c.2104C>T (p.Arg702Trp) rs528779319 0.00001
NM_022124.6(CDH23):c.2289+1G>A rs769433759 0.00001
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys) rs745571683 0.00001
NM_022124.6(CDH23):c.5712G>A (p.Thr1904=) rs397517342 0.00001
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser) rs183431253 0.00001
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu) rs397517349 0.00001
NM_022124.6(CDH23):c.7362+5G>A rs727502931 0.00001
NM_022124.6(CDH23):c.7776G>A (p.Trp2592Ter) rs397517353 0.00001
NC_000010.11:g.71645936_71645956del rs397517305
NC_000010.11:g.71682535dup rs753886326
NM_022124.6(CDH23):c.1449+1G>T rs876657680
NM_022124.6(CDH23):c.2012del (p.Phe671fs) rs397517313
NM_022124.6(CDH23):c.2701G>A (p.Glu901Lys) rs876657636
NM_022124.6(CDH23):c.380A>G (p.Asp127Gly) rs876657754
NM_022124.6(CDH23):c.46del (p.Val16fs) rs397517331
NM_022124.6(CDH23):c.5272C>T (p.Gln1758Ter) rs397517337
NM_022124.6(CDH23):c.5712+1G>A rs397517341
NM_022124.6(CDH23):c.5923+1G>A rs397517346
NM_022124.6(CDH23):c.6049+1G>A rs111033247
NM_022124.6(CDH23):c.6412del (p.Glu2138fs) rs111033473
NM_022124.6(CDH23):c.6968del (p.Pro2323fs) rs397517350
NM_022124.6(CDH23):c.7483-1G>C rs876657682
NM_022124.6(CDH23):c.7873-2A>T rs727502933
NM_022124.6(CDH23):c.8781C>A (p.Tyr2927Ter) rs397517362
NM_022124.6(CDH23):c.9176del (p.Pro3059fs) rs1554877806
NM_022124.6(CDH23):c.945+1G>T rs727502919
NM_022124.6(CDH23):c.9556C>T (p.Arg3186Ter) rs773464867
NM_022124.6(CDH23):c.9629_9632del (p.Ile3210fs) rs397517367

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