ClinVar Miner

List of variants in gene SLC25A13 reported as uncertain significance for Citrullinemia type I

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_014251.3(SLC25A13):c.*570G>A rs147716687 0.00299
NM_014251.3(SLC25A13):c.1311+3A>G rs180844972 0.00092
NM_014251.3(SLC25A13):c.*310C>T rs530869704 0.00083
NM_014251.3(SLC25A13):c.*909C>G rs550323481 0.00078
NM_014251.3(SLC25A13):c.1910T>C (p.Val637Ala) rs148962110 0.00075
NM_014251.3(SLC25A13):c.1230+11T>C rs201352939 0.00060
NM_014251.3(SLC25A13):c.1230A>C (p.Thr410=) rs150021522 0.00032
NM_014251.3(SLC25A13):c.1088G>T (p.Gly363Val) rs35996658 0.00028
NM_014251.3(SLC25A13):c.*792C>T rs574119069 0.00019
NM_014251.3(SLC25A13):c.*729G>A rs373153995 0.00016
NM_014251.3(SLC25A13):c.1275G>A (p.Ser425=) rs376416252 0.00014
NM_014251.3(SLC25A13):c.1945G>C (p.Gly649Arg) rs757317844 0.00013
NM_014251.3(SLC25A13):c.*191T>C rs529835831 0.00009
NM_014251.3(SLC25A13):c.1393G>T (p.Gly465Cys) rs372216502 0.00007
NM_014251.3(SLC25A13):c.421G>A (p.Glu141Lys) rs1131697 0.00004
NM_014251.3(SLC25A13):c.*517A>G rs886062523 0.00001
NM_014251.3(SLC25A13):c.*72G>A rs755310327 0.00001
NM_014251.3(SLC25A13):c.1064G>A (p.Arg355Gln) rs398122839 0.00001
NM_014251.3(SLC25A13):c.*330G>T rs886062525
NM_014251.3(SLC25A13):c.*507T>C rs886062524
NM_014251.3(SLC25A13):c.1177+5G>A rs886062527
NM_014251.3(SLC25A13):c.1312-12del rs771217878
NM_014251.3(SLC25A13):c.1313C>T (p.Ala438Val) rs886062526
NM_014251.3(SLC25A13):c.1797T>A (p.Thr599=) rs757177279
NM_014251.3(SLC25A13):c.711T>C (p.Tyr237=) rs886062529
NM_014251.3(SLC25A13):c.848+10del rs886062528

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