ClinVar Miner

List of variants in gene SLC17A8 reported as uncertain significance for Nonsyndromic Hearing Loss, Dominant

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_139319.3(SLC17A8):c.*1496_*1497insT rs886048798
NM_139319.3(SLC17A8):c.*1498_*1499insTT rs886048799
NM_139319.3(SLC17A8):c.*1498dup rs886048799
NM_139319.3(SLC17A8):c.*1501_*1502insGT rs11418303
NM_139319.3(SLC17A8):c.*1513_*1521del rs59689031
NM_139319.3(SLC17A8):c.*1520_*1521dup rs59689031
NM_139319.3(SLC17A8):c.*1521dup rs59689031
NM_139319.3(SLC17A8):c.1631AGA[1] (p.Lys545del) rs141689561

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