ClinVar Miner

List of variants in gene CDH23 reported as benign by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.6130G>A (p.Glu2044Lys) rs10466026 0.28442
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met) rs41281330 0.01037
NM_022124.6(CDH23):c.1449+74G>T rs115450602 0.00906
NM_022124.6(CDH23):c.1134+22C>T rs115745871 0.00690
NM_022124.6(CDH23):c.6990G>T (p.Leu2330=) rs111033495 0.00610
NM_022124.6(CDH23):c.4875G>A (p.Val1625=) rs149664909 0.00324
NM_022124.6(CDH23):c.198G>A (p.Val66=) rs111033288 0.00103
NM_022124.6(CDH23):c.6918G>A (p.Leu2306=) rs146819206 0.00063
NM_022124.6(CDH23):c.9077+7C>T rs76114420 0.00053
NM_022124.6(CDH23):c.1078C>T (p.Leu360=) rs185917383 0.00048
NM_022124.6(CDH23):c.5026G>A (p.Ala1676Thr) rs56043301 0.00009

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