ClinVar Miner

List of variants reported as pathogenic for color vision disorder by Clinical Genetics and Genomics, Karolinska University Hospital

Included ClinVar conditions (16):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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_019098.5(CNGB3):c.1148del (p.Thr383fs)	rs397515360	0.00183
NM_019098.5(CNGB3):c.1214T>C (p.Leu405Ser)	rs1178528306

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