ClinVar Miner

List of variants in gene combination ELP4, PAX6 reported as benign for obsolete anophthalmia-microphthalmia syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000280.4(PAX6):c.*3202G>A rs608293 0.88020
NM_000280.4(PAX6):c.*1184A>T rs1506 0.72043
NM_000280.4(PAX6):c.*3958G>A rs3026401 0.70691
NM_000280.4(PAX6):c.*2160G>A rs12421026 0.42881
NM_000280.4(PAX6):c.*2707C>T rs3026398 0.22983
NC_000011.10:g.31787522C>T rs662702 0.14929
NM_000280.4(PAX6):c.*4296G>C rs16922475 0.05615
NM_000280.4(PAX6):c.*2901T>C rs542906080 0.04927
NM_000280.4(PAX6):c.*2305G>A rs73477656 0.02650
NM_001368894.2(PAX6):c.*842G>A rs115045926 0.01172
NM_000280.4(PAX6):c.*2559G>A rs141344418 0.00935
NM_000280.4(PAX6):c.*2416G>T rs79739975 0.00857
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.*1063A>G rs117590302 0.00220

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