ClinVar Miner

List of variants reported as benign for Pendred syndrome by Illumina Laboratory Services, Illumina

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000441.2(SLC26A4):c.*868G>A rs2712218 0.17928
NM_000441.2(SLC26A4):c.*1797G>C rs76820337 0.04454
NM_000441.2(SLC26A4):c.*1302T>G rs112019874 0.01487
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser) rs17154353 0.01449
NM_000441.2(SLC26A4):c.970A>T (p.Asn324Tyr) rs36039758 0.01056
NM_000441.2(SLC26A4):c.1002-9A>C rs10234822 0.01002
NM_000441.2(SLC26A4):c.*11G>A rs113496951 0.00867
NM_000441.2(SLC26A4):c.1488C>T (p.Leu496=) rs77407094 0.00782
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val) rs111033423 0.00010

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