ClinVar Miner

List of variants in gene SLC27A5 reported by Eurofins NTD LLC (GA)

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Total variants: 107
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HGVS dbSNP gnomAD frequency
NM_012254.3(SLC27A5):c.149T>C (p.Met50Thr) rs35350976 0.17724
NM_012254.3(SLC27A5):c.157C>T (p.Arg53Trp) rs34415062 0.16909
NM_012254.3(SLC27A5):c.336G>A (p.Pro112=) rs145284710 0.00549
NM_012254.3(SLC27A5):c.110T>G (p.Leu37Arg) rs146147877 0.00512
NM_012254.3(SLC27A5):c.2006C>G (p.Ala669Gly) rs145618122 0.00506
NM_012254.3(SLC27A5):c.1616T>C (p.Met539Thr) rs147464959 0.00437
NM_012254.3(SLC27A5):c.641C>T (p.Ala214Val) rs113904799 0.00340
NM_012254.3(SLC27A5):c.1160G>A (p.Arg387Gln) rs142672241 0.00331
NM_012254.3(SLC27A5):c.1229G>A (p.Gly410Glu) rs149709084 0.00173
NM_012254.3(SLC27A5):c.263C>T (p.Pro88Leu) rs137880349 0.00169
NM_012254.3(SLC27A5):c.1125C>T (p.Gly375=) rs144295671 0.00168
NM_012254.3(SLC27A5):c.899-6C>T rs200114980 0.00135
NM_012254.3(SLC27A5):c.1686G>A (p.Val562=) rs201217575 0.00112
NM_012254.3(SLC27A5):c.937C>T (p.Leu313=) rs143272701 0.00111
NM_012254.3(SLC27A5):c.934G>A (p.Val312Ile) rs146682651 0.00079
NM_012254.3(SLC27A5):c.743G>A (p.Arg248His) rs138318343 0.00058
NM_012254.3(SLC27A5):c.1338G>A (p.Gly446=) rs148459550 0.00057
NM_012254.3(SLC27A5):c.1668-10C>T rs375785125 0.00053
NM_012254.3(SLC27A5):c.1710G>A (p.Val570=) rs141574728 0.00050
NM_012254.3(SLC27A5):c.1377+10C>T rs146267408 0.00048
NM_012254.3(SLC27A5):c.513C>G (p.Ala171=) rs139127895 0.00047
NM_012254.3(SLC27A5):c.524C>T (p.Thr175Ile) rs150780205 0.00047
NM_012254.3(SLC27A5):c.335C>T (p.Pro112Leu) rs143207513 0.00038
NM_012254.3(SLC27A5):c.626G>A (p.Arg209Gln) rs148336155 0.00031
NM_012254.3(SLC27A5):c.1419G>A (p.Ala473=) rs375870114 0.00022
NM_012254.3(SLC27A5):c.820C>T (p.His274Tyr) rs201227208 0.00021
NM_012254.3(SLC27A5):c.1196G>A (p.Arg399Gln) rs148488764 0.00019
NM_012254.3(SLC27A5):c.2070C>G (p.Leu690=) rs184994408 0.00019
NM_012254.3(SLC27A5):c.695G>A (p.Arg232Gln) rs143789846 0.00017
NM_012254.3(SLC27A5):c.1827G>A (p.Gly609=) rs143397900 0.00014
NM_012254.3(SLC27A5):c.1642C>T (p.Arg548Cys) rs375156687 0.00013
NM_012254.3(SLC27A5):c.553G>A (p.Val185Ile) rs757127359 0.00013
NM_012254.3(SLC27A5):c.1378-10T>G rs373847681 0.00012
NM_012254.3(SLC27A5):c.1210C>T (p.Arg404Cys) rs144545445 0.00011
NM_012254.3(SLC27A5):c.368G>A (p.Arg123Gln) rs760497999 0.00010
NM_012254.3(SLC27A5):c.40C>A (p.Leu14Met) rs777078434 0.00010
NM_012254.3(SLC27A5):c.421G>A (p.Gly141Ser) rs780265922 0.00010
NM_012254.3(SLC27A5):c.264G>A (p.Pro88=) rs370326212 0.00007
NM_012254.3(SLC27A5):c.842G>A (p.Arg281His) rs149015959 0.00007
NM_012254.3(SLC27A5):c.1265G>A (p.Arg422His) rs752870959 0.00006
NM_012254.3(SLC27A5):c.1345G>A (p.Gly449Arg) rs372223695 0.00006
NM_012254.3(SLC27A5):c.1668A>G (p.Arg556=) rs370902216 0.00006
NM_012254.3(SLC27A5):c.169G>A (p.Gly57Ser) rs887693979 0.00006
NM_012254.3(SLC27A5):c.378G>A (p.Ala126=) rs373630138 0.00006
NM_012254.3(SLC27A5):c.451C>T (p.Arg151Trp) rs372683842 0.00006
NM_012254.3(SLC27A5):c.1468G>C (p.Gly490Arg) rs201981392 0.00005
NM_012254.3(SLC27A5):c.802C>G (p.Leu268Val) rs762146651 0.00005
NM_012254.3(SLC27A5):c.1510C>A (p.Pro504Thr) rs749771979 0.00004
NM_012254.3(SLC27A5):c.1852G>A (p.Ala618Thr) rs757763999 0.00004
NM_012254.3(SLC27A5):c.2017C>T (p.Arg673Trp) rs201393670 0.00004
NM_012254.3(SLC27A5):c.225C>T (p.Leu75=) rs372436444 0.00004
NM_012254.3(SLC27A5):c.2049G>T (p.Val683=) rs552597468 0.00003
NM_012254.3(SLC27A5):c.214G>A (p.Ala72Thr) rs1385453307 0.00003
NM_012254.3(SLC27A5):c.3G>A (p.Met1Ile) rs1211961754 0.00003
NM_012254.3(SLC27A5):c.78A>G (p.Pro26=) rs1483819065 0.00003
NM_012254.3(SLC27A5):c.106C>T (p.Leu36Phe) rs369338679 0.00002
NM_012254.3(SLC27A5):c.1339C>T (p.Arg447Cys) rs558863851 0.00002
NM_012254.3(SLC27A5):c.2035A>G (p.Met679Val) rs1357685333 0.00002
NM_012254.3(SLC27A5):c.464C>T (p.Ala155Val) rs764993873 0.00002
NM_012254.3(SLC27A5):c.*9C>G rs757064472 0.00001
NM_012254.3(SLC27A5):c.100C>T (p.Arg34Cys) rs747784689 0.00001
NM_012254.3(SLC27A5):c.1030G>A (p.Val344Ile) rs199844677 0.00001
NM_012254.3(SLC27A5):c.1114C>T (p.Arg372Trp) rs546045040 0.00001
NM_012254.3(SLC27A5):c.1182+7C>T rs376013474 0.00001
NM_012254.3(SLC27A5):c.1315A>G (p.Met439Val) rs886044091 0.00001
NM_012254.3(SLC27A5):c.1397T>G (p.Leu466Arg) rs1448753725 0.00001
NM_012254.3(SLC27A5):c.1498G>T (p.Val500Leu) rs748584848 0.00001
NM_012254.3(SLC27A5):c.158G>A (p.Arg53Gln) rs767090447 0.00001
NM_012254.3(SLC27A5):c.1612G>A (p.Ala538Thr) rs370116449 0.00001
NM_012254.3(SLC27A5):c.1617G>T (p.Met539Ile) rs765196787 0.00001
NM_012254.3(SLC27A5):c.1833G>C (p.Lys611Asn) rs1271035007 0.00001
NM_012254.3(SLC27A5):c.192G>A (p.Leu64=) rs1555794930 0.00001
NM_012254.3(SLC27A5):c.1975G>T (p.Val659Phe) rs144638352 0.00001
NM_012254.3(SLC27A5):c.254G>A (p.Arg85His) rs915498804 0.00001
NM_012254.3(SLC27A5):c.343A>G (p.Thr115Ala) rs1198602960 0.00001
NM_012254.3(SLC27A5):c.589C>A (p.Leu197Met) rs1308686810 0.00001
NM_012254.3(SLC27A5):c.58C>T (p.Leu20=) rs1162988139 0.00001
NM_012254.3(SLC27A5):c.780G>A (p.Gly260=) rs766541570 0.00001
NM_012254.3(SLC27A5):c.945G>A (p.Met315Ile) rs370687843 0.00001
NM_012254.3(SLC27A5):c.1148del (p.Gly383fs) rs1568627987
NM_012254.3(SLC27A5):c.1177C>T (p.Pro393Ser) rs1568627959
NM_012254.3(SLC27A5):c.1235G>C (p.Arg412Pro) rs574617502
NM_012254.3(SLC27A5):c.1407C>T (p.Phe469=) rs536826731
NM_012254.3(SLC27A5):c.1464_1468+1del rs762193852
NM_012254.3(SLC27A5):c.1535G>T (p.Arg512Leu) rs775344859
NM_012254.3(SLC27A5):c.1667+9C>T rs1568626327
NM_012254.3(SLC27A5):c.1668-9T>A rs1568626123
NM_012254.3(SLC27A5):c.1696G>A (p.Glu566Lys) rs1189055667
NM_012254.3(SLC27A5):c.1743C>T (p.Asn581=) rs771388335
NM_012254.3(SLC27A5):c.1784del (p.Gly595fs) rs1568625758
NM_012254.3(SLC27A5):c.1830G>T (p.Glu610Asp) rs1568625715
NM_012254.3(SLC27A5):c.1876C>T (p.Pro626Ser) rs1193317227
NM_012254.3(SLC27A5):c.1909G>C (p.Val637Leu) rs761615269
NM_012254.3(SLC27A5):c.1940G>A (p.Arg647Gln) rs564295346
NM_012254.3(SLC27A5):c.1940G>T (p.Arg647Leu) rs564295346
NM_012254.3(SLC27A5):c.274A>T (p.Ile92Phe) rs1568635174
NM_012254.3(SLC27A5):c.27GCT[7] (p.Leu17dup) rs760686310
NM_012254.3(SLC27A5):c.27GCT[8] (p.Leu16_Leu17dup) rs760686310
NM_012254.3(SLC27A5):c.27GCT[9] (p.Leu15_Leu17dup) rs760686310
NM_012254.3(SLC27A5):c.309G>A (p.Lys103=) rs956885811
NM_012254.3(SLC27A5):c.356C>A (p.Ala119Asp) rs750908091
NM_012254.3(SLC27A5):c.377C>T (p.Ala126Val) rs764941642
NM_012254.3(SLC27A5):c.760C>T (p.His254Tyr) rs1568634250
NM_012254.3(SLC27A5):c.813G>T (p.Ala271=) rs559467414
NM_012254.3(SLC27A5):c.906G>A (p.Pro302=) rs757298753
NM_012254.3(SLC27A5):c.972C>T (p.Ala324=) rs1555794626
NM_012254.3(SLC27A5):c.973A>G (p.Thr325Ala) rs1270425536

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