ClinVar Miner

List of variants in gene SLC26A4 reported as pathogenic by Baylor Genetics

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Gene type:
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Total variants: 11
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NM_000441.2(SLC26A4):c.1001+1G>A rs80338849
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp) rs111033307
NM_000441.2(SLC26A4):c.1458dup (p.Ile487fs) rs1584331188
NM_000441.2(SLC26A4):c.1746del (p.Ala584fs) rs1241745103
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362
NM_000441.2(SLC26A4):c.2184_2187dup (p.Gln730fs)
NM_000441.2(SLC26A4):c.2319+1G>A rs542079779
NM_000441.2(SLC26A4):c.2T>C (p.Met1Thr) rs111033302
NM_000441.2(SLC26A4):c.918+2T>C rs912147281
NM_000441.2(SLC26A4):c.919-2A>G rs111033313

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