ClinVar Miner

List of variants studied for autosomal recessive nonsyndromic hearing loss 61

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_198999.3(SLC26A5):c.1986+30T>C rs10273883 0.92836
NM_198999.3(SLC26A5):c.403+14T>C rs7779997 0.38939
NM_198999.3(SLC26A5):c.989A>G (p.Asn330Ser) rs117444825 0.00990
NM_198999.3(SLC26A5):c.-53-2A>G rs116900495 0.00748
NM_198999.3(SLC26A5):c.137T>C (p.Leu46Pro) rs141952919 0.00271
NM_198999.3(SLC26A5):c.1061C>A (p.Thr354Asn) rs755628714 0.00001
NM_198999.3(SLC26A5):c.2066G>A (p.Arg689Gln) rs201060425 0.00001
NM_198999.3(SLC26A5):c.92G>C (p.Arg31Thr) rs1346488074 0.00001
NM_198999.3(SLC26A5):c.1539G>T (p.Lys513Asn)
NM_198999.3(SLC26A5):c.1936T>C (p.Phe646Leu)
NM_198999.3(SLC26A5):c.209G>A (p.Trp70Ter) rs431905518
NM_198999.3(SLC26A5):c.2146del (p.Arg716fs)
NM_198999.3(SLC26A5):c.390A>C (p.Arg130Ser) rs431905517
NM_198999.3(SLC26A5):c.646G>A (p.Ala216Thr)
NM_198999.3(SLC26A5):c.949del (p.Val317fs) rs770663172

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