List of variants in gene CDH23 reported as likely pathogenic by Blueprint Genetics

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_022124.6(CDH23):c.5187+1G>A	rs1280991447	0.00003
NM_022124.6(CDH23):c.2398-1G>T	rs751788879	0.00001
NM_022124.6(CDH23):c.2060-1G>A	rs1865145294
NM_022124.6(CDH23):c.2132_2139del (p.Ile710_Tyr711insTer)	rs1865149889
NM_022124.6(CDH23):c.336+1G>T	rs764824311
NM_022124.6(CDH23):c.6050-1G>A	rs762805265
NM_022124.6(CDH23):c.6435_6463del (p.Ala2146fs)	rs1841315122
NM_022124.6(CDH23):c.6838_6841del (p.Thr2280fs)	rs1841460358
NM_022124.6(CDH23):c.849del (p.Phe284fs)	rs1861132418
NM_022124.6(CDH23):c.9198+2T>A	rs1841921374

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