ClinVar Miner

List of variants in gene RPGR reported as likely pathogenic by CeGaT Praxis fuer Humangenetik Tuebingen

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Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_000328.3(RPGR):c.133G>T (p.Glu45Ter) rs1555968524
NM_000328.3(RPGR):c.1905+1176_1905+1186del rs1555961350
NM_000328.3(RPGR):c.1905+441del rs1064797365
NM_000328.3(RPGR):c.1905+511G>T rs1555961787
NM_000328.3(RPGR):c.1905+666del rs1555961704
NM_000328.3(RPGR):c.1905+700G>T rs1555961677
NM_000328.3(RPGR):c.1905+742G>T rs1555961624
NM_000328.3(RPGR):c.1905+880G>T rs1057519236
NM_000328.3(RPGR):c.1905+959G>A rs1555961491
NM_000328.3(RPGR):c.1905+982del rs1064797364
NM_000328.3(RPGR):c.1905+990dup rs1569235999
NM_000328.3(RPGR):c.255del (p.Lys85fs) rs1555968248
NM_000328.3(RPGR):c.299T>C (p.Leu100Pro) rs1064797366

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