ClinVar Miner

List of variants studied for perceptual disorders by Laboratory of Human Genetics, Institute of Biosciences - University of Sao Paulo

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro) rs28939086 0.00021
NM_000441.2(SLC26A4):c.84C>A (p.Ser28Arg) rs539699299 0.00001
NM_000441.2(SLC26A4):c.918+2T>C rs912147281 0.00001
NM_000441.2(SLC26A4):c.1003T>G (p.Phe335Val) rs111033212
NM_000441.2(SLC26A4):c.1554G>A (p.Trp518Ter) rs727503428
NM_000441.2(SLC26A4):c.2235+2T>C rs1554362815
NM_017433.5(MYO3A):c.2090T>G (p.Leu697Trp) rs1564573788

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