ClinVar Miner

List of variants studied for perceptual disorders by Genomic Medicine Lab, University of California San Francisco

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001098.3(ACO2):c.1942C>T (p.Arg648Cys) rs369064868 0.00001
NM_000059.4(BRCA2):c.8487+3A>G rs81002806
NM_005422.4(TECTA):c.2900C>A (p.Ala967Glu) rs199688655
NM_007118.4(TRIO):c.3319C>T (p.Gln1107Ter)

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