ClinVar Miner

List of variants reported as benign for FLVCR1-related retinopathy with or without ataxia by Genome-Nilou Lab

Included ClinVar conditions (1):

Posterior column ataxia-retinitis pigmentosa syndrome

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_014053.4(FLVCR1):c.154G>C (p.Ala52Pro)	rs11120047	0.45814
NM_014053.4(FLVCR1):c.1631C>T (p.Thr544Met)	rs3207090	0.38895
NM_014053.4(FLVCR1):c.1593+9T>C	rs17019870	0.21623

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