ClinVar Miner

List of variants in gene CDH23 reported as pathogenic by GeneDx

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Total variants: 13
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NM_022124.6(CDH23):c.1428dup (p.Thr477fs) rs750803248
NM_022124.6(CDH23):c.193del (p.Leu65fs) rs796051861
NM_022124.6(CDH23):c.2425G>T (p.Glu809Ter) rs1039517349
NM_022124.6(CDH23):c.288+1G>C rs1057520661
NM_022124.6(CDH23):c.4309C>T (p.Arg1437Ter) rs397517329
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln) rs111033270
NM_022124.6(CDH23):c.6050-9G>A rs367928692
NM_022124.6(CDH23):c.6400_6401AG[1] (p.Glu2135fs) rs55947063
NM_022124.6(CDH23):c.6682del (p.Glu2228fs) rs1554874884
NM_022124.6(CDH23):c.7660+1G>T rs1057520662
NM_022124.6(CDH23):c.8222C>A (p.Ser2741Ter) rs1554876990
NM_022124.6(CDH23):c.8770_8771insTGGCTGTA (p.Ser2924fs) rs1064795044
NM_022124.6(CDH23):c.8803C>T (p.Arg2935Ter) rs1190307769

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