ClinVar Miner

List of variants in gene RPGR reported as pathogenic by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001034853.2(RPGR):c.1387C>T (p.Gln463Ter) rs886044302
NM_001034853.2(RPGR):c.154G>A (p.Gly52Arg) rs281865296
NM_001034853.2(RPGR):c.155-2A>G rs62638632
NM_001034853.2(RPGR):c.486del (p.Phe162fs) rs281865297
NM_001034853.2(RPGR):c.505G>T (p.Glu169Ter) rs369037463
NM_001034853.2(RPGR):c.642_656delinsC (p.Gly215fs) rs796065331

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