ClinVar Miner

List of variants in gene CABP4 reported as pathogenic by Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_145200.5(CABP4):c.673C>T (p.Arg225Ter)	rs531851447	0.00002
NM_145200.5(CABP4):c.370del (p.Arg124fs)	rs1482314855

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