ClinVar Miner

List of variants in gene combination LOC123956210, SLC26A4 reported as pathogenic for Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg)	rs121908362	0.00004
NM_000441.2(SLC26A4):c.2167C>G (p.His723Asp)	rs1417146153

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