ClinVar Miner

List of variants in gene RPGR reported as pathogenic for Cone-rod dystrophy, X-linked 1

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Gene type:
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Total variants: 6
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NM_000328.3(RPGR):c.1905+1024G>T rs137852551
NM_000328.3(RPGR):c.1905+1187_1905+1188del rs606231181
NM_000328.3(RPGR):c.1905+1191_1905+1192del rs606231180
NM_000328.3(RPGR):c.1905+942_1905+943inv rs267607019
NM_000328.3(RPGR):c.485_486del (p.Phe162fs) rs281865297
RPGR, 15-BP DEL, NT694

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