ClinVar Miner

List of variants in gene SLC9A3 studied for Congenital secretory sodium diarrhea 8

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_004174.4(SLC9A3):c.1443G>C (p.Gly481=) rs9885312 0.89494
NM_004174.4(SLC9A3):c.1517+70A>G rs6872510 0.88427
NM_004174.4(SLC9A3):c.2395T>C (p.Cys799Arg) rs2247114 0.85225
NM_004174.4(SLC9A3):c.1891-37G>C rs2244240 0.85166
NM_004174.4(SLC9A3):c.1647+46T>G rs890986 0.83861
NM_004174.4(SLC9A3):c.1233C>T (p.Tyr411=) rs143144929 0.00417
NM_004174.4(SLC9A3):c.579G>A (p.Pro193=) rs542245214 0.00093
NM_004174.4(SLC9A3):c.1814G>A (p.Arg605Gln) rs146547322 0.00017
NM_004174.4(SLC9A3):c.2087A>G (p.Asn696Ser) rs372062509 0.00009
NM_004174.4(SLC9A3):c.1212T>C (p.Ile404=) rs201331870 0.00007
NM_004174.4(SLC9A3):c.931G>A (p.Ala311Thr) rs201704801 0.00007
NM_004174.4(SLC9A3):c.370G>A (p.Val124Met) rs566685003 0.00004
NM_004174.4(SLC9A3):c.340G>A (p.Val114Ile) rs200473589 0.00003
NM_004174.4(SLC9A3):c.1862A>G (p.Gln621Arg) rs202223784 0.00002
NM_004174.4(SLC9A3):c.932+1G>A rs144524702 0.00002
NM_004174.4(SLC9A3):c.1039G>A (p.Glu347Lys) rs766583286 0.00001
NM_004174.4(SLC9A3):c.1145G>A (p.Arg382Gln) rs766076524 0.00001
NM_004174.4(SLC9A3):c.805G>A (p.Ala269Thr) rs869312807 0.00001
NM_004174.4(SLC9A3):c.1052dup (p.Met352fs)
NM_004174.4(SLC9A3):c.1214A>G (p.Asp405Gly)
NM_004174.4(SLC9A3):c.1356+10A>G rs3777230
NM_004174.4(SLC9A3):c.1446+1G>C
NM_004174.4(SLC9A3):c.1446+1delinsCA
NM_004174.4(SLC9A3):c.1647+68dup rs5865334
NM_004174.4(SLC9A3):c.1745del (p.Ser582fs) rs869320692
NM_004174.4(SLC9A3):c.341TCT[3] (p.Phe117del) rs776026092
NM_004174.4(SLC9A3):c.445G>A (p.Val149Met)
NM_004174.4(SLC9A3):c.514+58C>G rs11746373
NM_004174.4(SLC9A3):c.650C>T (p.Ser217Leu)
NM_004174.4(SLC9A3):c.782dup (p.Thr262fs) rs869320759
NM_004174.4(SLC9A3):c.818C>T (p.Ser273Leu)
NM_004174.4(SLC9A3):c.932C>T (p.Ala311Val) rs869312806

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