ClinVar Miner

List of variants reported as likely benign for color vision disorder by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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_006204.4(PDE6C):c.1755G>T (p.Lys585Asn)	rs45522236	0.00677
NM_001377295.2(GNAT2):c.147C>T (p.Ile49=)	rs146945932	0.00115
NM_006204.4(PDE6C):c.252G>T (p.Leu84=)	rs1131978

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