ClinVar Miner

List of variants reported as pathogenic for Choroideremia by OMIM

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000390.4(CHM):c.1446del (p.Gly483fs) rs1244003380 0.00001
NG_009874.2:g.93620_93621insLINE1invCTAATTGATCTTCT
NM_000390.4(CHM):c.1358_1359delinsGA (p.Ser453Ter) rs132630263
NM_000390.4(CHM):c.1471G>T (p.Glu491Ter) rs132630265
NM_000390.4(CHM):c.1484C>A (p.Ser495Ter) rs132630264
NM_000390.4(CHM):c.1497C>A (p.Cys499Ter) rs132630267
NM_000390.4(CHM):c.1520A>G (p.His507Arg) rs397514603
NM_000390.4(CHM):c.1584_1587del (p.Val529fs) rs587776746
NM_000390.4(CHM):c.877C>T (p.Arg293Ter) rs132630266

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