ClinVar Miner

List of variants in gene CABP4 studied for color vision disorder

Included ClinVar conditions (16):

Achromatopsia
Achromatopsia 2
Achromatopsia 3
Achromatopsia 3; Severe early-childhood-onset retinal dystrophy
Achromatopsia 3; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa
Achromatopsia 4
Achromatopsia 6
Achromatopsia 7
Blue color blindness
Cone dystrophy 4
Cone dystrophy 4; Achromatopsia
Cone dystrophy 5, X-linked
Cone monochromatism
Deuteranomaly
Protan defect
Retinal cone dystrophy 3A

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_145200.5(CABP4):c.646C>T (p.Arg216Ter)	rs150115958	0.00004
NM_145200.5(CABP4):c.773A>T (p.Asn258Ile)	rs773516968

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