ClinVar Miner

List of variants in gene RPGR reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001034853.2(RPGR):c.1598C>T (p.Thr533Met) rs41312104 0.02014
NM_001034853.2(RPGR):c.1296A>T (p.Glu432Asp) rs28718831 0.00730
NM_001034853.2(RPGR):c.154+14T>C rs200069705 0.00040
NM_001034853.2(RPGR):c.141T>G (p.Ser47=) rs62638631 0.00034
NM_001034853.2(RPGR):c.1576CAA[1] (p.Gln527del) rs62653033
NM_001034853.2(RPGR):c.179G>T (p.Gly60Val) rs62638634

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