ClinVar Miner

List of variants in gene combination ELP4, PAX6 reported as likely benign for Aniridia, Cerebellar Ataxia, And Intellectual Disability

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Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000280.4(PAX6):c.*2901T>C rs542906080 0.04927
NM_000280.4(PAX6):c.*2985G>A rs3026399 0.00879
NM_001368894.2(PAX6):c.*417C>T rs55756603 0.00810
NM_000280.4(PAX6):c.*2238T>G rs73477658 0.00701
NM_000280.4(PAX6):c.*3670C>T rs149777109 0.00394
NM_000280.4(PAX6):c.*3168C>T rs187705792 0.00295
NM_000280.4(PAX6):c.*2697T>A rs138881442 0.00236
NM_000280.4(PAX6):c.*1478C>T rs181818313 0.00198
NM_000280.4(PAX6):c.*2506C>T rs3026397 0.00189
NM_000280.4(PAX6):c.*4370C>G rs183115097 0.00189
NM_000280.4(PAX6):c.*5108A>G rs146579778 0.00120
NM_000280.4(PAX6):c.*3885G>T rs183433948 0.00089
NM_001368894.2(PAX6):c.*841C>T rs530931929 0.00031
NM_000280.4(PAX6):c.*4627A>C rs140971065 0.00030
NM_000280.4(PAX6):c.*3027G>A rs541022955 0.00017
NM_000280.4(PAX6):c.*3318A>G rs371438311 0.00013
NM_000280.4(PAX6):c.*1604A>T rs189545730 0.00011
NM_000280.4(PAX6):c.*1287A>T rs576321279 0.00008
NM_000280.4(PAX6):c.*3746C>T rs567720234 0.00005
NM_000280.4(PAX6):c.*4696G>C rs180780893 0.00002
NM_000280.4(PAX6):c.*2159C>T rs3026396 0.00001
NM_000280.4(PAX6):c.*4599T>G rs185968715

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