ClinVar Miner

List of variants in gene SLC13A5 reported as benign

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Gene type:
ClinVar version:
Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_177550.5(SLC13A5):c.1437+176A>G rs218696 0.64114
NM_177550.5(SLC13A5):c.1438-113T>A rs218692 0.62908
NM_177550.5(SLC13A5):c.717-263A>C rs218671 0.50953
NM_177550.5(SLC13A5):c.1576-226A>G rs218690 0.26940
NM_177550.5(SLC13A5):c.*176T>A rs218689 0.25510
NM_177550.5(SLC13A5):c.840-105A>G rs7220915 0.25132
NM_177550.5(SLC13A5):c.547+221C>A rs218675 0.24892
NM_177550.5(SLC13A5):c.547+264T>C rs218674 0.24727
NM_177550.5(SLC13A5):c.547+165dup rs76135761 0.24703
NM_177550.5(SLC13A5):c.547+179C>T rs218676 0.24163
NM_177550.5(SLC13A5):c.1276-63C>T rs4796540 0.23897
NM_177550.5(SLC13A5):c.548-291G>A rs9906062 0.18205
NM_177550.5(SLC13A5):c.1156+170T>C rs58910651 0.14166
NM_177550.5(SLC13A5):c.103-226G>C rs2871294 0.13881
NM_177550.5(SLC13A5):c.1056-262T>C rs218686 0.12851
NM_177550.5(SLC13A5):c.1437+84G>A rs218697 0.12744
NM_177550.5(SLC13A5):c.1438-164G>A rs3744394 0.12400
NM_177550.5(SLC13A5):c.369-60C>T rs218678 0.12006
NM_177550.5(SLC13A5):c.840-225G>A rs76041201 0.11217
NM_177550.5(SLC13A5):c.548-119G>A rs16956170 0.10078
NM_177550.5(SLC13A5):c.547+202G>A rs76446096 0.09813
NM_177550.5(SLC13A5):c.102+24C>T rs62621831 0.09357
NM_177550.5(SLC13A5):c.1275+115C>T rs17670749 0.09350
NM_177550.5(SLC13A5):c.1092C>T (p.Ala364=) rs55698160 0.09334
NM_177550.5(SLC13A5):c.1275+232A>G rs56188881 0.08284
NM_177550.5(SLC13A5):c.1276-318G>A rs76594654 0.08191
NM_177550.5(SLC13A5):c.1275+204A>G rs16956162 0.06769
NM_177550.5(SLC13A5):c.1005C>T (p.Pro335=) rs56224509 0.06724
NM_177550.5(SLC13A5):c.840-115G>A rs73976250 0.06264
NM_177550.5(SLC13A5):c.717-335G>C rs74934559 0.06246
NM_177550.5(SLC13A5):c.548-292C>T rs73976252 0.06230
NM_177550.5(SLC13A5):c.839+285C>G rs57992805 0.06216
NM_177550.5(SLC13A5):c.547+272T>G rs72836207 0.06175
NM_177550.5(SLC13A5):c.548-80G>A rs8072966 0.06056
NM_177550.5(SLC13A5):c.717-312C>T rs74252223 0.05495
NM_177550.5(SLC13A5):c.1438-82A>G rs16956138 0.04112
NM_177550.5(SLC13A5):c.102+101G>C rs114362714 0.03930
NM_177550.5(SLC13A5):c.840-28G>A rs77795940 0.03683
NM_177550.5(SLC13A5):c.*31T>C rs16956120 0.03222
NM_177550.5(SLC13A5):c.547+304C>T rs16956176 0.03169
NM_177550.5(SLC13A5):c.369-148C>T rs8076962 0.02583
NM_177550.5(SLC13A5):c.369-14C>T rs218677 0.02396
NM_177550.5(SLC13A5):c.716+11G>C rs7215596 0.02122
NM_177550.5(SLC13A5):c.-17A>C rs62061545 0.01928
NM_177550.5(SLC13A5):c.*315G>A rs16956117 0.01754
NM_177550.5(SLC13A5):c.547+47C>T rs62061540 0.01614
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.232-11C>T rs112805825 0.00061
NM_177550.5(SLC13A5):c.801C>T (p.Phe267=) rs200645836 0.00032
NM_177550.5(SLC13A5):c.1395C>T (p.Asn465=) rs150722760 0.00016
NM_177550.5(SLC13A5):c.1077G>A (p.Val359=) rs372363091 0.00010
NM_177550.5(SLC13A5):c.1037G>T (p.Trp346Leu) rs746999375 0.00002
NM_177550.5(SLC13A5):c.120C>T (p.Tyr40=) rs529673803 0.00002
NM_177550.5(SLC13A5):c.717-16C>T rs558529852 0.00001
NM_177550.5(SLC13A5):c.-5G>C rs201070767
NM_177550.5(SLC13A5):c.102+232G>A rs8078568
NM_177550.5(SLC13A5):c.1157-68GT[18] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[20] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[21] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[22] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[24] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[25] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[27] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[28] rs200900896
NM_177550.5(SLC13A5):c.231+46CT[2] rs144316437
NM_177550.5(SLC13A5):c.232-14G>A rs551601158
NM_177550.5(SLC13A5):c.716+11_716+21del rs554361040

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