List of variants in gene CABP4 reported as pathogenic for retinal disorder

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_145200.5(CABP4):c.370C>T (p.Arg124Cys)	rs121917828	0.00022
NM_145200.5(CABP4):c.646C>T (p.Arg216Ter)	rs150115958	0.00004
NM_145200.5(CABP4):c.292C>T (p.Arg98Ter)	rs777555935	0.00002
NM_145200.5(CABP4):c.673C>T (p.Arg225Ter)	rs531851447	0.00002
NM_145200.5(CABP4):c.757C>T (p.Arg253Ter)	rs761991624	0.00001
NM_145200.3(CABP4):c.800_801delAG	rs786205249
NM_145200.5(CABP4):c.154C>T (p.Arg52Ter)	rs745382789
NM_145200.5(CABP4):c.61_62delinsA (p.Pro21fs)	rs1590998813
NM_145200.5(CABP4):c.65del (p.Pro22fs)	rs775166854
NM_145200.5(CABP4):c.81_82insA (p.Pro28fs)	rs786205852

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