ClinVar Miner

List of variants in gene SLC26A4 reported by Department of Pathology and Laboratory Medicine, Sinai Health System

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NC_000007.14:g.107660756T>C rs60284988 0.00209
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val) rs111033303 0.00037
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848 0.00034
NM_000441.2(SLC26A4):c.1001+1G>A rs80338849 0.00029
NM_000441.2(SLC26A4):c.-3-2A>G rs397516411 0.00025
NM_000441.2(SLC26A4):c.-4+5G>A rs727503425 0.00006
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305 0.00006
NM_000441.2(SLC26A4):c.1195T>C (p.Ser399Pro) rs747431002 0.00003
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr) rs542620119 0.00003
NM_000441.2(SLC26A4):c.1300G>A (p.Ala434Thr) rs757552791 0.00002
NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val) rs786204474 0.00001
NM_000441.2(SLC26A4):c.1766A>C (p.Gln589Pro) rs397516422 0.00001
NM_000441.2(SLC26A4):c.1027G>C (p.Val343Leu) rs2535317628
NM_000441.2(SLC26A4):c.1341+1del rs397516417
NM_000441.2(SLC26A4):c.1681G>T (p.Gly561Cys)
NM_000441.2(SLC26A4):c.1948G>A (p.Val650Ile)
NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val) rs111033310
NM_000441.2(SLC26A4):c.2314G>T (p.Asp772Tyr)

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