ClinVar Miner

List of variants reported as uncertain significance for color vision disorder by 3billion

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.680T>C (p.Leu227Pro)	rs752920111	0.00001
NM_006204.4(PDE6C):c.2424C>G (p.Asn808Lys)	rs912743767
NM_019098.5(CNGB3):c.1214T>C (p.Leu405Ser)	rs1178528306

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