ClinVar Miner

List of variants in gene CDH23 reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 7
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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.289-1G>A
NM_022124.6(CDH23):c.5820+5G>A rs2132940635
NM_022124.6(CDH23):c.6253+1G>A rs1554874373
NM_022124.6(CDH23):c.6449del (p.Gly2150fs) rs1564796673
NM_022124.6(CDH23):c.9270C>G (p.Tyr3090Ter) rs1564807887
NM_022124.6(CDH23):c.9284dup (p.Arg3096fs) rs1564808024

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