ClinVar Miner

List of variants in gene RPGR reported as benign for X-linked cone-rod dystrophy 1

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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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
NM_001034853.2(RPGR):c.223A>G (p.Ile75Val) rs111631988 0.03363
NM_001034853.2(RPGR):c.552G>T (p.Gln184His) rs5963403 0.02128

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