List of variants in gene SLC26A4 reported as pathogenic for SLC26A4-Related Disorders

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

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val)	rs111033303	0.00039
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro)	rs80338848	0.00035
NM_000441.2(SLC26A4):c.1001+1G>A	rs80338849	0.00029
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro)	rs28939086	0.00021
NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe)	rs111033199	0.00019
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly)	rs111033244	0.00016
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln)	rs111033205	0.00011

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