ClinVar Miner

List of variants studied for macular degeneration, X-linked atrophic by Genome-Nilou Lab

Included ClinVar conditions (2):

Macular degeneration, X-linked atrophic
X-linked cone-rod dystrophy 1; Retinitis pigmentosa 3; Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness; Macular degeneration, X-linked atrophic

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000328.3(RPGR):c.2241+11T>C	rs4084271	0.20121
NM_001034853.2(RPGR):c.1164G>A (p.Ala388=)	rs1801686	0.11812
NM_000328.3(RPGR):c.2149+46C>T	rs41312110	0.03703

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