ClinVar Miner

List of variants in gene combination CIMIP3, GUCA1A, GUCA1ANB-GUCA1A reported as uncertain significance for retinal disorder

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000409.5(GUCA1ANB-GUCA1A):c.-536T>C rs543150310 0.00145
NM_000409.5(GUCA1ANB-GUCA1A):c.-473C>T rs572342270 0.00078
NM_000409.5(GUCA1ANB-GUCA1A):c.-372G>A rs200816650 0.00039
NM_000409.5(GUCA1ANB-GUCA1A):c.-466G>A rs188911829 0.00034
NM_000409.5(GUCA1ANB-GUCA1A):c.-465G>T rs181327724 0.00033
NM_000409.5(GUCA1ANB-GUCA1A):c.-413G>A rs144002571 0.00029
NM_000409.5(GUCA1ANB-GUCA1A):c.-378G>A rs184851706 0.00015
NM_000409.5(GUCA1ANB-GUCA1A):c.-293G>A rs748633700 0.00011
NM_000409.5(GUCA1ANB-GUCA1A):c.-388C>A rs886061391

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