ClinVar Miner

List of variants in gene RPGR reported by Department of Ophthalmology and Visual Sciences Kyoto University

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Total variants: 8
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HGVS dbSNP
NM_000328.2(RPGR):c.469+1G>A rs62638646
NM_001034853.1(RPGR):c.1087_1088insGTAG (p.Val363Glyfs) rs527236109
NM_001034853.1(RPGR):c.1981G>T (p.Glu661Ter) rs527236108
NM_001034853.1(RPGR):c.223A>G (p.Ile75Val) rs111631988
NM_001034853.1(RPGR):c.3396C>T (p.Asn1132=) rs12687163
NM_001034853.1(RPGR):c.785C>G (p.Ala262Gly) rs138018739
NM_001034853.1(RPGR):c.894_895del (p.Ser298Argfs) rs527236111
NM_001034853.1(RPGR):c.922G>C (p.Ala308Pro) rs527236112

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