ClinVar Miner

List of variants reported as likely pathogenic for color vision disorder by Natera, Inc.

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.467C>T (p.Ser156Phe)	rs139207764	0.00005
NM_019098.5(CNGB3):c.1929-1G>A	rs750257554	0.00001
NM_019098.5(CNGB3):c.130-1G>A	rs1554619303

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