ClinVar Miner

List of variants reported as likely benign for central areolar choroidal dystrophy by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (6):

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_000180.4(GUCY2D):c.1724C>T (p.Pro575Leu)	rs28743021	0.01496
NM_000180.4(GUCY2D):c.1371C>T (p.Cys457=)	rs55916957	0.00340
NM_000322.5(PRPH2):c.483C>T (p.Ile161=)	rs76989855

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