ClinVar Miner

List of variants in gene SLC26A4 reported by Precision Medicine Center, Zhengzhou University

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu) rs397516431 0.00004
NM_000441.2(SLC26A4):c.439A>G (p.Met147Val) rs760413427 0.00001
NM_000441.2(SLC26A4):c.1264-12T>A rs2129316889
NM_000441.2(SLC26A4):c.1299dup (p.Ala434fs) rs2129316898
NM_000441.2(SLC26A4):c.1656T>G (p.Ser552Arg) rs2129317902
NM_000441.2(SLC26A4):c.1786C>T (p.Gln596Ter) rs1476190682
NM_000441.2(SLC26A4):c.1991C>T (p.Ala664Val) rs2129318281
NM_000441.2(SLC26A4):c.2000T>C (p.Phe667Ser) rs121908360
NM_000441.2(SLC26A4):c.317C>A (p.Ala106Asp) rs1562822565
NM_000441.2(SLC26A4):c.387del (p.Phe130fs) rs2129311265
NM_000441.2(SLC26A4):c.415+2T>C rs2129311282
NM_000441.2(SLC26A4):c.754T>C (p.Ser252Pro) rs1315422549
NM_000441.2(SLC26A4):c.87G>C (p.Glu29Asp) rs1554352240

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