ClinVar Miner

List of variants in gene RPGRIP1 reported as uncertain significance for Leber congenital amaurosis 1

Included ClinVar conditions (8):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_020366.4(RPGRIP1):c.2012G>A (p.Gly671Glu)	rs1348186141	0.00001
NM_020366.4(RPGRIP1):c.3748+17dup	rs578107768

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