ClinVar Miner

List of variants in gene SLC26A5 studied for auditory system disorder

Included ClinVar conditions (322):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
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.775G>A (p.Val259Met) rs765458806 0.00010
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.1514+1G>A rs727504481
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.949del (p.Val317fs) rs770663172

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