ClinVar Miner

List of variants in gene SLC13A5 reported as benign for complex neurodevelopmental disorder

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
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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.369-14C>T rs218677 0.02396
NM_177550.5(SLC13A5):c.716+11G>C rs7215596 0.02122
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.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.232-14G>A rs551601158
NM_177550.5(SLC13A5):c.716+11_716+21del rs554361040

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