List of variants in gene CDH23 reported as likely pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=)	rs370983472	0.00006
NM_022124.6(CDH23):c.6085C>T (p.Arg2029Trp)	rs750880909	0.00002
NM_022124.6(CDH23):c.8083G>A (p.Asp2695Asn)	rs369501114	0.00002
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys)	rs745571683	0.00001
NM_022124.6(CDH23):c.4662C>A (p.Asp1554Glu)	rs771353319	0.00001
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser)	rs183431253	0.00001
NM_022124.6(CDH23):c.902G>A (p.Arg301Gln)	rs121908355	0.00001
NM_022124.6(CDH23):c.1134+1G>A
NM_022124.6(CDH23):c.2984del (p.Phe995fs)	rs1554858698
NM_022124.6(CDH23):c.336+1del
NM_022124.6(CDH23):c.494G>T (p.Gly165Val)	rs776354402
NM_022124.6(CDH23):c.7054+1G>A	rs1057524265
NM_022124.6(CDH23):c.7225-1G>A	rs1064795722
NM_022124.6(CDH23):c.871G>A (p.Gly291Arg)	rs767343063

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