ClinVar Miner

List of variants in gene SLC13A5 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_177550.4(SLC13A5):c.-84C>T rs115287213 0.02787
NM_177550.5(SLC13A5):c.103-61T>C rs62061541 0.01748
NM_177550.5(SLC13A5):c.840-134C>A rs116715176 0.01387
NM_177550.5(SLC13A5):c.1438-56G>A rs78203589 0.01352
NM_177550.5(SLC13A5):c.1275+151A>T rs115733013 0.01232
NM_177550.5(SLC13A5):c.1157-204T>C rs117495155 0.01209
NM_177550.5(SLC13A5):c.1055+89G>C rs11869296 0.01124
NM_177550.5(SLC13A5):c.1276-151G>A rs115245849 0.01066
NM_177550.4(SLC13A5):c.-161C>G rs561401348 0.01028
NM_177550.5(SLC13A5):c.1575+28G>A rs139509544 0.00928
NM_177550.5(SLC13A5):c.1056-33T>C rs117607871 0.00756
NM_177550.5(SLC13A5):c.1056-290C>T rs142395921 0.00700
NM_177550.5(SLC13A5):c.1575+40C>T rs112859498 0.00632
NM_177550.5(SLC13A5):c.1157-179A>T rs191618414 0.00624
NC_000017.11:g.6713628T>C rs114219045 0.00563
NM_177550.5(SLC13A5):c.1156+34G>A rs138567784 0.00458
NM_177550.5(SLC13A5):c.716+283G>T rs560058347 0.00453
NM_177550.5(SLC13A5):c.1157-153T>G rs147653004 0.00405
NM_177550.5(SLC13A5):c.840-265A>C rs796739375 0.00387
NM_177550.5(SLC13A5):c.840-90A>G rs557415050 0.00387
NM_177550.5(SLC13A5):c.1437+280C>T rs73976238 0.00356
NM_177550.5(SLC13A5):c.368+214C>T rs144037171 0.00320
NM_177550.5(SLC13A5):c.426G>A (p.Thr142=) rs72836208 0.00250
NM_177550.5(SLC13A5):c.716+102C>T rs534420975 0.00173
NM_177550.5(SLC13A5):c.231+6C>A rs138834680 0.00091
NM_177550.5(SLC13A5):c.232-11C>T rs112805825 0.00061
NM_177550.5(SLC13A5):c.716+15G>A rs377090828 0.00049
NM_177550.5(SLC13A5):c.690C>T (p.Asn230=) rs146385318 0.00041
NM_177550.5(SLC13A5):c.1576-13G>A rs377340234 0.00040
NM_177550.5(SLC13A5):c.369-17C>T rs372696631 0.00040
NM_177550.5(SLC13A5):c.582G>A (p.Gly194=) rs147260918 0.00040
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.642C>T (p.Tyr214=) rs148755614 0.00018
NM_177550.5(SLC13A5):c.1156+9C>T rs201530285 0.00016
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.1276-19C>A rs200223186 0.00015
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.927G>A (p.Leu309=) rs141287518 0.00014
NM_177550.5(SLC13A5):c.103-15G>A rs374410291 0.00013
NM_177550.5(SLC13A5):c.681G>A (p.Thr227=) rs139698810 0.00013
NM_177550.5(SLC13A5):c.882C>T (p.Asn294=) rs143504660 0.00013
NM_177550.5(SLC13A5):c.369-12C>T rs375349735 0.00012
NM_177550.5(SLC13A5):c.60C>T (p.Thr20=) rs141481217 0.00011
NM_177550.5(SLC13A5):c.1077G>A (p.Val359=) rs372363091 0.00010
NM_177550.5(SLC13A5):c.1365C>T (p.Leu455=) rs572994797 0.00008
NM_177550.5(SLC13A5):c.1461G>A (p.Pro487=) rs374067396 0.00007
NM_177550.5(SLC13A5):c.369-304A>G rs544302299 0.00007
NM_177550.5(SLC13A5):c.1055+16A>C rs756534283 0.00006
NM_177550.5(SLC13A5):c.663C>T (p.Thr221=) rs373831482 0.00006
NM_177550.5(SLC13A5):c.1584A>G (p.Thr528=) rs764993670 0.00004
NM_177550.5(SLC13A5):c.18C>T (p.Ser6=) rs775174636 0.00004
NM_177550.5(SLC13A5):c.232-8C>T rs566063560 0.00004
NM_177550.5(SLC13A5):c.945G>A (p.Ala315=) rs1057522909 0.00004
NM_177550.4(SLC13A5):c.-39C>T rs369429487 0.00003
NM_177550.5(SLC13A5):c.1281G>A (p.Ser427=) rs377534564 0.00003
NM_177550.5(SLC13A5):c.1290C>T (p.Ser430=) rs756166033 0.00003
NM_177550.5(SLC13A5):c.654C>T (p.Ile218=) rs547998800 0.00003
NM_177550.5(SLC13A5):c.1055+15C>A rs764186836 0.00002
NM_177550.5(SLC13A5):c.120C>T (p.Tyr40=) rs529673803 0.00002
NM_177550.5(SLC13A5):c.1438-4G>A rs901014442 0.00002
NM_177550.5(SLC13A5):c.232-15C>T rs199904860 0.00002
NM_177550.5(SLC13A5):c.1017C>T (p.Pro339=) rs200365614 0.00001
NM_177550.5(SLC13A5):c.1065C>T (p.Ser355=) rs140940366 0.00001
NM_177550.5(SLC13A5):c.1323C>T (p.His441=) rs368369308 0.00001
NM_177550.5(SLC13A5):c.1629T>C (p.Ala543=) rs766561824 0.00001
NM_177550.5(SLC13A5):c.327C>T (p.Ile109=) rs761010502 0.00001
NM_177550.5(SLC13A5):c.402C>T (p.Leu134=) rs1336828226 0.00001
NM_177550.5(SLC13A5):c.942C>T (p.Phe314=) rs546617630 0.00001
NM_177550.5(SLC13A5):c.1002C>T (p.Asp334=) rs765942920
NM_177550.5(SLC13A5):c.1005C>A (p.Pro335=) rs56224509
NM_177550.5(SLC13A5):c.1157-4C>A rs772441738
NM_177550.5(SLC13A5):c.1291G>T (p.Val431Leu) rs201036096
NM_177550.5(SLC13A5):c.1437+15del rs1555540915
NM_177550.5(SLC13A5):c.201C>T (p.Phe67=) rs900258843
NM_177550.5(SLC13A5):c.232-14G>A rs551601158
NM_177550.5(SLC13A5):c.390C>A (p.Gly130=) rs371499002
NM_177550.5(SLC13A5):c.459G>A (p.Glu153=) rs1057521689
NM_177550.5(SLC13A5):c.63G>T (p.Pro21=) rs1597686030
NM_177550.5(SLC13A5):c.716+11_716+21del rs554361040
NM_177550.5(SLC13A5):c.716+198C>A rs147514246
NM_177550.5(SLC13A5):c.716+8C>T rs746595823
NM_177550.5(SLC13A5):c.840-7T>C rs750657841
NM_177550.5(SLC13A5):c.90G>T (p.Leu30=) rs758719176

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