ClinVar Miner

List of variants in gene SLC26A5 reported as pathogenic for autosomal recessive nonsyndromic hearing loss 61

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_198999.3(SLC26A5):c.209G>A (p.Trp70Ter) rs431905518
NM_198999.3(SLC26A5):c.390A>C (p.Arg130Ser) rs431905517
NM_198999.3(SLC26A5):c.949del (p.Val317fs) rs770663172

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