List of variants in gene CHRDL1 reported as pathogenic for corneal 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: 14

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HGVS	dbSNP	gnomAD frequency
NM_001143981.2(CHRDL1):c.229C>T (p.Arg77Ter)	rs775515705	0.00001
NM_001143981.2(CHRDL1):c.102_103del (p.Glu34fs)	rs398122852
NM_001143981.2(CHRDL1):c.1123C>T (p.Gln375Ter)	rs2148409748
NM_001143981.2(CHRDL1):c.1156+1G>T	rs2148409694
NM_001143981.2(CHRDL1):c.207+1G>A	rs2148509595
NM_001143981.2(CHRDL1):c.301+2T>G	rs587776868
NM_001143981.2(CHRDL1):c.483dup (p.Lys162fs)	rs2148463846
NM_001143981.2(CHRDL1):c.520dup (p.Ser174fs)	rs1057516043
NM_001143981.2(CHRDL1):c.652C>T (p.Arg218Ter)	rs387906714
NM_001143981.2(CHRDL1):c.782G>T (p.Cys261Phe)	rs387906713
NM_001143981.2(CHRDL1):c.807_808del (p.His270fs)	rs863225435
NM_001143981.2(CHRDL1):c.872del (p.Cys291fs)	rs398122851
NM_001143981.2(CHRDL1):c.94+1G>A	rs2090111362
NM_001143981.2(CHRDL1):c.976A>T (p.Lys326Ter)	rs2148418538

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