ClinVar Miner

List of variants in gene SLC13A5 reported by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_177550.5(SLC13A5):c.1092C>T (p.Ala364=) rs55698160 0.09334
NM_177550.5(SLC13A5):c.1005C>T (p.Pro335=) rs56224509 0.06724
NM_177550.5(SLC13A5):c.1101A>G (p.Leu367=) rs61520357 0.00918
NM_177550.5(SLC13A5):c.426G>A (p.Thr142=) rs72836208 0.00250
NM_177550.5(SLC13A5):c.582G>A (p.Gly194=) rs147260918 0.00040
NM_177550.5(SLC13A5):c.1230C>T (p.Ile410=) rs149447388 0.00035
NM_177550.5(SLC13A5):c.801C>T (p.Phe267=) rs200645836 0.00032
NM_177550.5(SLC13A5):c.1095C>G (p.Thr365=) rs139660928 0.00029
NM_177550.5(SLC13A5):c.1366G>A (p.Val456Ile) rs146047560 0.00026
NM_177550.5(SLC13A5):c.1372G>A (p.Val458Met) rs372801738 0.00017
NM_177550.5(SLC13A5):c.741C>T (p.Leu247=) rs138520827 0.00017
NM_177550.5(SLC13A5):c.1395C>T (p.Asn465=) rs150722760 0.00016
NM_177550.5(SLC13A5):c.285C>T (p.Ile95=) rs149068818 0.00016
NM_177550.5(SLC13A5):c.504C>T (p.Ala168=) rs141506210 0.00015
NM_177550.5(SLC13A5):c.144C>T (p.Tyr48=) rs138537951 0.00014
NM_177550.5(SLC13A5):c.1291G>A (p.Val431Met) rs201036096 0.00013
NM_177550.5(SLC13A5):c.4G>A (p.Ala2Thr) rs146396085 0.00013
NM_177550.5(SLC13A5):c.681G>A (p.Thr227=) rs139698810 0.00013
NM_177550.5(SLC13A5):c.1077G>A (p.Val359=) rs372363091 0.00010
NM_177550.5(SLC13A5):c.321G>A (p.Lys107=) rs138023567 0.00010
NM_177550.5(SLC13A5):c.357C>T (p.Ala119=) rs748950933 0.00010
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569 0.00009
NM_177550.5(SLC13A5):c.931C>T (p.Pro311Ser) rs201678684 0.00008
NM_177550.5(SLC13A5):c.1442G>A (p.Arg481His) rs762789388 0.00007
NM_177550.5(SLC13A5):c.663C>T (p.Thr221=) rs373831482 0.00006
NM_177550.5(SLC13A5):c.752C>T (p.Ala251Val) rs150517372 0.00006
NM_177550.5(SLC13A5):c.1560C>A (p.Leu520=) rs771239934 0.00004
NM_177550.5(SLC13A5):c.1582A>G (p.Thr528Ala) rs569395560 0.00004
NM_177550.5(SLC13A5):c.18C>T (p.Ser6=) rs775174636 0.00004
NM_177550.5(SLC13A5):c.338C>T (p.Thr113Met) rs759069275 0.00004
NM_177550.5(SLC13A5):c.391G>A (p.Val131Ile) rs140389204 0.00004
NM_177550.5(SLC13A5):c.505G>A (p.Gly169Ser) rs199620361 0.00004
NM_177550.5(SLC13A5):c.920G>A (p.Arg307Gln) rs377021126 0.00004
NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter) rs773770609 0.00004
NM_177550.5(SLC13A5):c.1290C>T (p.Ser430=) rs756166033 0.00003
NM_177550.5(SLC13A5):c.1485C>G (p.Thr495=) rs907914369 0.00003
NM_177550.5(SLC13A5):c.305G>A (p.Arg102His) rs764688100 0.00003
NM_177550.5(SLC13A5):c.602G>A (p.Arg201Gln) rs200275193 0.00003
NM_177550.5(SLC13A5):c.1037G>T (p.Trp346Leu) rs746999375 0.00002
NM_177550.5(SLC13A5):c.1330C>T (p.Pro444Ser) rs765709852 0.00002
NM_177550.5(SLC13A5):c.1420C>T (p.Pro474Ser) rs777285678 0.00002
NM_177550.5(SLC13A5):c.771C>T (p.Ala257=) rs1042746956 0.00002
NM_177550.5(SLC13A5):c.1066G>A (p.Asp356Asn) rs151050636 0.00001
NM_177550.5(SLC13A5):c.1396G>A (p.Val466Met) rs750791192 0.00001
NM_177550.5(SLC13A5):c.327C>T (p.Ile109=) rs761010502 0.00001
NM_177550.5(SLC13A5):c.453C>T (p.Ile151=) rs144523287 0.00001
NM_177550.5(SLC13A5):c.502G>A (p.Ala168Thr) rs1555542943 0.00001
NM_177550.5(SLC13A5):c.569G>A (p.Gly190Asp) rs766313348 0.00001
NM_177550.5(SLC13A5):c.69G>T (p.Leu23=) rs1280438112 0.00001
NM_177550.5(SLC13A5):c.873C>T (p.Ser291=) rs767067775 0.00001
NM_177550.5(SLC13A5):c.991T>A (p.Phe331Ile) rs142301014 0.00001
NM_177550.5(SLC13A5):c.-5G>A rs201070767
NM_177550.5(SLC13A5):c.-5G>C rs201070767
NM_177550.5(SLC13A5):c.1124C>A (p.Pro375His) rs1567616807
NM_177550.5(SLC13A5):c.1175A>G (p.Tyr392Cys)
NM_177550.5(SLC13A5):c.1248C>A (p.Gly416=) rs139042926
NM_177550.5(SLC13A5):c.1321C>T (p.His441Tyr)
NM_177550.5(SLC13A5):c.1455C>T (p.Leu485=)
NM_177550.5(SLC13A5):c.1564G>T (p.Val522Phe)
NM_177550.5(SLC13A5):c.1576-4C>G
NM_177550.5(SLC13A5):c.21T>A (p.Tyr7Ter)
NM_177550.5(SLC13A5):c.243G>C (p.Gln81His)
NM_177550.5(SLC13A5):c.367C>T (p.Arg123Trp) rs754937425
NM_177550.5(SLC13A5):c.548-1G>A
NM_177550.5(SLC13A5):c.54C>G (p.Phe18Leu)
NM_177550.5(SLC13A5):c.59C>T (p.Thr20Ile)
NM_177550.5(SLC13A5):c.601C>A (p.Arg201=)
NM_177550.5(SLC13A5):c.608G>A (p.Arg203Lys)
NM_177550.5(SLC13A5):c.714C>A (p.Asn238Lys) rs754553205
NM_177550.5(SLC13A5):c.718T>C (p.Leu240=)
NM_177550.5(SLC13A5):c.943G>A (p.Ala315Thr)

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