ClinVar Miner

List of variants in gene SLC9A3 reported as uncertain significance for Inborn genetic diseases

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Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_004174.4(SLC9A3):c.343T>G (p.Phe115Val) rs753749438 0.00016
NM_004174.4(SLC9A3):c.863G>C (p.Gly288Ala) rs369845154 0.00015
NM_004174.4(SLC9A3):c.32G>A (p.Arg11Gln) rs557874732 0.00013
NM_004174.4(SLC9A3):c.23G>A (p.Gly8Asp) rs978955926 0.00012
NM_004174.4(SLC9A3):c.1817G>A (p.Arg606Gln) rs745750367 0.00009
NM_004174.4(SLC9A3):c.442G>A (p.Val148Ile) rs765054136 0.00009
NM_004174.4(SLC9A3):c.116G>A (p.Ser39Asn) rs772053823 0.00006
NM_004174.4(SLC9A3):c.1675A>G (p.Ile559Val) rs767406705 0.00006
NM_004174.4(SLC9A3):c.1847C>T (p.Thr616Met) rs755360958 0.00005
NM_004174.4(SLC9A3):c.2333G>C (p.Gly778Ala) rs775354904 0.00005
NM_004174.4(SLC9A3):c.517G>A (p.Asp173Asn) rs759118320 0.00005
NM_004174.4(SLC9A3):c.1658G>A (p.Arg553His) rs138322600 0.00004
NM_004174.4(SLC9A3):c.340G>A (p.Val114Ile) rs200473589 0.00003
NM_004174.4(SLC9A3):c.454G>A (p.Val152Met) rs760117543 0.00003
NM_004174.4(SLC9A3):c.80G>A (p.Gly27Asp) rs774980944 0.00003
NM_004174.4(SLC9A3):c.1007G>A (p.Arg336His) rs752227359 0.00002
NM_004174.4(SLC9A3):c.2464G>A (p.Glu822Lys) rs780527679 0.00002
NM_004174.4(SLC9A3):c.818C>T (p.Ser273Leu) rs1222612723 0.00002
NM_004174.4(SLC9A3):c.1003G>A (p.Val335Met) rs1450869594 0.00001
NM_004174.4(SLC9A3):c.1138G>A (p.Val380Met) rs752736082 0.00001
NM_004174.4(SLC9A3):c.1174C>T (p.Leu392Phe) rs150519657 0.00001
NM_004174.4(SLC9A3):c.1244G>A (p.Arg415His) rs1327970675 0.00001
NM_004174.4(SLC9A3):c.1330G>A (p.Val444Ile) rs1274861552 0.00001
NM_004174.4(SLC9A3):c.1351T>A (p.Phe451Ile) rs199716115 0.00001
NM_004174.4(SLC9A3):c.1471A>G (p.Ile491Val) rs768900330 0.00001
NM_004174.4(SLC9A3):c.1523C>T (p.Ser508Phe) rs1194714502 0.00001
NM_004174.4(SLC9A3):c.1589G>A (p.Arg530Gln) rs757572851 0.00001
NM_004174.4(SLC9A3):c.1655G>A (p.Arg552His) rs758544114 0.00001
NM_004174.4(SLC9A3):c.2047C>T (p.Arg683Trp) rs1381381512 0.00001
NM_004174.4(SLC9A3):c.2051A>C (p.Glu684Ala) rs751811859 0.00001
NM_004174.4(SLC9A3):c.2065C>T (p.Arg689Trp) rs760662014 0.00001
NM_004174.4(SLC9A3):c.2072A>T (p.Asn691Ile) rs770287557 0.00001
NM_004174.4(SLC9A3):c.2177A>G (p.Tyr726Cys) rs906835449 0.00001
NM_004174.4(SLC9A3):c.2255T>C (p.Ile752Thr) rs768462607 0.00001
NM_004174.4(SLC9A3):c.307G>A (p.Asp103Asn) rs747669825 0.00001
NM_004174.4(SLC9A3):c.463G>A (p.Ala155Thr) rs755902342 0.00001
NM_004174.4(SLC9A3):c.490G>A (p.Gly164Ser) rs781351234 0.00001
NM_004174.4(SLC9A3):c.715G>C (p.Gly239Arg) rs759490208 0.00001
NM_004174.4(SLC9A3):c.742G>A (p.Val248Met) rs772016118 0.00001
NM_004174.4(SLC9A3):c.868G>A (p.Val290Met) rs769278551 0.00001
NM_004174.4(SLC9A3):c.963G>T (p.Lys321Asn) rs1739316868 0.00001
NM_004174.4(SLC9A3):c.104C>A (p.Ala35Glu)
NM_004174.4(SLC9A3):c.1404C>A (p.Ser468Arg)
NM_004174.4(SLC9A3):c.141C>G (p.Phe47Leu) rs1733966635
NM_004174.4(SLC9A3):c.1576A>C (p.Lys526Gln)
NM_004174.4(SLC9A3):c.1642G>A (p.Ala548Thr)
NM_004174.4(SLC9A3):c.1643C>A (p.Ala548Asp)
NM_004174.4(SLC9A3):c.1685C>G (p.Pro562Arg)
NM_004174.4(SLC9A3):c.1795C>A (p.Gln599Lys) rs1341724685
NM_004174.4(SLC9A3):c.1796A>G (p.Gln599Arg)
NM_004174.4(SLC9A3):c.2000C>A (p.Thr667Asn)
NM_004174.4(SLC9A3):c.2009G>C (p.Gly670Ala)
NM_004174.4(SLC9A3):c.20G>A (p.Arg7Gln)
NM_004174.4(SLC9A3):c.2174A>G (p.Asn725Ser)
NM_004174.4(SLC9A3):c.2188A>C (p.Met730Leu)
NM_004174.4(SLC9A3):c.2212G>T (p.Ala738Ser)
NM_004174.4(SLC9A3):c.2239G>A (p.Asp747Asn)
NM_004174.4(SLC9A3):c.226C>T (p.His76Tyr)
NM_004174.4(SLC9A3):c.2272T>A (p.Ser758Thr)
NM_004174.4(SLC9A3):c.240C>A (p.Ser80Arg) rs969509137
NM_004174.4(SLC9A3):c.256G>A (p.Ala86Thr) rs558720750
NM_004174.4(SLC9A3):c.331A>T (p.Thr111Ser) rs2477626010
NM_004174.4(SLC9A3):c.40C>A (p.Leu14Met)
NM_004174.4(SLC9A3):c.41T>G (p.Leu14Arg)
NM_004174.4(SLC9A3):c.538G>C (p.Asp180His)
NM_004174.4(SLC9A3):c.571G>C (p.Val191Leu) rs2477611039
NM_004174.4(SLC9A3):c.643G>A (p.Gly215Arg)
NM_004174.4(SLC9A3):c.703G>A (p.Val235Met) rs753551713
NM_004174.4(SLC9A3):c.71G>T (p.Arg24Leu) rs1212776156
NM_004174.4(SLC9A3):c.763T>C (p.Phe255Leu)
NM_004174.4(SLC9A3):c.920C>T (p.Ser307Leu)
NM_004174.4(SLC9A3):c.94C>T (p.Pro32Ser) rs1165460854

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