ClinVar Miner

List of variants in gene CDH23 reported as uncertain significance by CeGaT Praxis fuer Humangenetik Tuebingen

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Gene type:
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Total variants: 16
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HGVS dbSNP
NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys) rs370074117
NM_022124.6(CDH23):c.10044C>G (p.Pro3348=) rs370568585
NM_022124.6(CDH23):c.1063G>A (p.Val355Met) rs374571664
NM_022124.6(CDH23):c.1550T>G (p.Leu517Arg) rs1554854090
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269
NM_022124.6(CDH23):c.2729A>G (p.Tyr910Cys) rs557257494
NM_022124.6(CDH23):c.2830A>G (p.Ser944Gly) rs188098974
NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys) rs756147087
NM_022124.6(CDH23):c.2878G>A (p.Glu960Lys) rs111033458
NM_022124.6(CDH23):c.4625G>A (p.Gly1542Asp) rs781339262
NM_022124.6(CDH23):c.5363C>T (p.Pro1788Leu) rs564555435
NM_022124.6(CDH23):c.5692G>A (p.Ala1898Thr) rs548937425
NM_022124.6(CDH23):c.6648C>T (p.Ala2216=) rs186394654
NM_022124.6(CDH23):c.7552G>A (p.Val2518Met) rs376617494
NM_022124.6(CDH23):c.766C>T (p.Arg256Cys) rs779764465
NM_022124.6(CDH23):c.9380+3G>T rs1289786818

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