List of variants in gene combination CDH23, LOC111982869 reported as pathogenic

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_022124.6(CDH23):c.7903G>T (p.Val2635Phe)	rs763721044	0.00002
NM_022124.6(CDH23):c.7899C>G (p.Tyr2633Ter)	rs1375264465	0.00001
NM_022124.6(CDH23):c.7901_7902del (p.Glu2634fs)	rs2132983525
NM_022124.6(CDH23):c.7908C>A (p.Tyr2636Ter)
NM_022124.6(CDH23):c.7908C>G (p.Tyr2636Ter)	rs878853337
NM_022124.6(CDH23):c.7919_7925dup (p.Gly2643_Leu2644insTerGly)	rs769879897
NM_022124.6(CDH23):c.7921G>A (p.Asp2641Asn)	rs397517354
NM_022124.6(CDH23):c.7975del (p.Arg2659fs)
NM_022124.6(CDH23):c.7979_7986del (p.Asp2660fs)	rs727504761
NM_022124.6(CDH23):c.7985_7988dup (p.Phe2663fs)
NM_022124.6(CDH23):c.7987TTC[1] (p.Phe2664del)	rs774559018
NM_022124.6(CDH23):c.8020C>T (p.Gln2674Ter)
NM_022124.6(CDH23):c.8053G>T (p.Ala2685Ser)	rs1362644811
NM_022124.6(CDH23):c.8054_8055del (p.Ala2685fs)	rs2132984089
NM_022124.6(CDH23):c.8064+1G>A	rs1474524543
NM_022124.6(CDH23):c.8064+1G>T	rs1474524543

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