ClinVar Miner

List of variants reported as pathogenic for color vision disorder by Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)	rs397515360	0.00183
NM_145200.5(CABP4):c.646C>T (p.Arg216Ter)	rs150115958	0.00004
NM_019098.5(CNGB3):c.1432C>T (p.Arg478Ter)	rs201320564	0.00002

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