List of variants in gene CDHR1 reported as likely pathogenic for retinal disorder

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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: 17

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HGVS	dbSNP	gnomAD frequency
NM_033100.4(CDHR1):c.783G>A (p.Pro261=)	rs147346345	0.00446
NM_033100.4(CDHR1):c.55+1G>A	rs547198427	0.00036
NM_033100.4(CDHR1):c.1A>G (p.Met1Val)	rs794726954	0.00003
NM_033100.4(CDHR1):c.1373T>A (p.Val458Asp)	rs760942217	0.00001
NM_033100.4(CDHR1):c.1744A>T (p.Lys582Ter)	rs142980820	0.00001
NM_033100.4(CDHR1):c.954_958del (p.His319fs)	rs760608593	0.00001
NM_033100.4(CDHR1):c.10del (p.Cys4fs)	rs2132782773
NM_033100.4(CDHR1):c.1448A>G (p.Glu483Gly)	rs1554857529
NM_033100.4(CDHR1):c.1468delinsCGC (p.Ser490fs)	rs1842324166
NM_033100.4(CDHR1):c.1527T>G (p.Tyr509Ter)	rs1477733493
NM_033100.4(CDHR1):c.1729G>T (p.Gly577Ter)
NM_033100.4(CDHR1):c.2410_2485del (p.Thr804fs)	rs1564666557
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs)	rs794727197
NM_033100.4(CDHR1):c.270dup (p.Thr91fs)	rs878853347
NM_033100.4(CDHR1):c.790del (p.Glu264fs)	rs1842189258
NM_033100.4(CDHR1):c.863-1G>A	rs886041900
NM_033100.4(CDHR1):c.928C>T (p.Gln310Ter)	rs1842216995

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