ClinVar Miner

List of variants studied for X-linked cone-rod dystrophy by OMIM

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NC_000023.11:g.(154153459_154153462)_(154154925_154154928)del
NG_009095.2:g.(16929_16947)_(21383_21401)del
NM_000513.2(OPN1MW):c.529T>C (p.Trp177Arg) rs267606927
NM_000513.2(OPN1MW):c.607T>C (p.Cys203Arg) rs104894914
NM_001034853.2(RPGR):c.2432GAGGGGAAGTAGAGG[1] (p.811GGEVE[1]) rs777850798
NM_001034853.2(RPGR):c.2847_2848inv (p.Glu949_Glu950delinsAspTer)
NM_001034853.2(RPGR):c.2929G>T (p.Gly977Ter) rs137852551
NM_001034853.2(RPGR):c.3092_3093del (p.Glu1031fs) rs606231181
NM_001034853.2(RPGR):c.3096_3097del (p.Glu1033fs) rs606231180
NM_001256789.3(CACNA1F):c.2509G>A (p.Gly837Ser) rs863225090
NM_001256789.3(CACNA1F):c.3439-1_3442delinsTGG rs863223294
NM_020061.6(OPN1LW):c.607T>C (p.Cys203Arg) rs121434621
NM_020061.6(OPN1LW):c.739C>T (p.Arg247Ter) rs104894912

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