List of variants in gene CDH23 reported as likely pathogenic for Usher syndrome type 1D

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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: 15

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HGVS	dbSNP	gnomAD frequency
NM_022124.6(CDH23):c.8920G>T (p.Glu2974Ter)	rs1344509500	0.00003
NM_022124.6(CDH23):c.8378G>A (p.Arg2793Gln)	rs547034667	0.00002
NM_022124.6(CDH23):c.5584G>A (p.Glu1862Lys)	rs773004408	0.00001
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser)	rs183431253	0.00001
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu)	rs397517349	0.00001
NM_022124.6(CDH23):c.1143_1176del	rs764949139
NM_022124.6(CDH23):c.2410G>A (p.Asp804Asn)	rs1554857840
NM_022124.6(CDH23):c.3220+1G>A	rs1487026359
NM_022124.6(CDH23):c.5369-1G>A	rs1564791773
NM_022124.6(CDH23):c.6253_6254insC (p.Gly2085fs)	rs2132953243
NM_022124.6(CDH23):c.6255_6256insCTCCCTTT (p.Phe2086fs)	rs2132953252
NM_022124.6(CDH23):c.6555G>T (p.Glu2185Asp)	rs2132954257
NM_022124.6(CDH23):c.7225-1G>A	rs1064795722
NM_022124.6(CDH23):c.8208_8209del (p.Val2737fs)
NM_022124.6(CDH23):c.9121C>G (p.Leu3041Val)

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