ClinVar Miner

List of variants studied for Autosomal recessive nonsyndromic hearing loss 21 by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_005422.4(TECTA):c.3743C>T (p.Pro1248Leu) rs138768918 0.00029
NM_005422.4(TECTA):c.1621G>A (p.Val541Met) rs370652301 0.00006

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