ClinVar Miner

List of variants studied for blue cone monochromacy

Included ClinVar conditions (2):
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NC_000023.11:g.(154153459_154153462)_(154154925_154154928)del
NM_000513.2(OPN1MW):c.529T>C (p.Trp177Arg) rs267606927
NM_000513.2(OPN1MW):c.607T>C (p.Cys203Arg) rs104894914
NM_020061.6(OPN1LW):c.269G>A (p.Trp90Ter) rs2067071714
NM_020061.6(OPN1LW):c.511G>A (p.Val171Met) rs5986963
NM_020061.6(OPN1LW):c.513G>T (p.Val171=) rs5986964
NM_020061.6(OPN1LW):c.607T>C (p.Cys203Arg) rs121434621
NM_020061.6(OPN1LW):c.739C>T (p.Arg247Ter) rs104894912
NM_020061.6(OPN1LW):c.843G>T (p.Trp281Cys)
Single allele

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