ClinVar Miner

List of variants reported as uncertain significance for Citrullinemia type I by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_014251.3(SLC25A13):c.*570G>A rs147716687 0.00299
NM_054012.4(ASS1):c.1101G>A (p.Leu367=) rs139031154 0.00128
NM_054012.4(ASS1):c.420+13T>G rs201883474 0.00099
NM_014251.3(SLC25A13):c.1311+3A>G rs180844972 0.00092
NM_014251.3(SLC25A13):c.-115G>T rs543933601 0.00089
NM_014251.3(SLC25A13):c.*310C>T rs530869704 0.00083
NM_054012.4(ASS1):c.*223A>T rs187259733 0.00080
NM_014251.3(SLC25A13):c.*909C>G rs550323481 0.00078
NM_014251.3(SLC25A13):c.1910T>C (p.Val637Ala) rs148962110 0.00075
NM_054012.3(ASS1):c.-171G>A rs886063529 0.00063
NM_014251.3(SLC25A13):c.1230+11T>C rs201352939 0.00060
NM_054012.4(ASS1):c.*55A>C rs191668957 0.00051
NM_054012.3(ASS1):c.-286_-285insT rs886063525 0.00044
NM_014251.3(SLC25A13):c.1230A>C (p.Thr410=) rs150021522 0.00032
NM_054012.4(ASS1):c.333C>T (p.Ala111=) rs141568959 0.00031
NM_014251.3(SLC25A13):c.1088G>T (p.Gly363Val) rs35996658 0.00028
NM_054012.4(ASS1):c.1015G>A (p.Ala339Thr) rs145100866 0.00028
NM_054012.4(ASS1):c.240C>T (p.Ser80=) rs147910468 0.00023
NM_054012.4(ASS1):c.-4C>T rs138350285 0.00022
NM_014251.3(SLC25A13):c.*792C>T rs574119069 0.00019
NM_054012.4(ASS1):c.299G>A (p.Arg100His) rs138279074 0.00019
NM_014251.3(SLC25A13):c.-127G>A rs886062532 0.00018
NM_014251.3(SLC25A13):c.*729G>A rs373153995 0.00016
NM_054012.4(ASS1):c.174+4C>A rs368133957 0.00016
NM_014251.3(SLC25A13):c.1275G>A (p.Ser425=) rs376416252 0.00014
NM_054012.4(ASS1):c.1165A>G (p.Thr389Ala) rs145288815 0.00014
NM_054012.4(ASS1):c.858A>T (p.Ala286=) rs201905628 0.00014
NM_014251.3(SLC25A13):c.1945G>C (p.Gly649Arg) rs757317844 0.00013
NM_054012.4(ASS1):c.241G>A (p.Ala81Thr) rs141640176 0.00013
NM_014251.3(SLC25A13):c.*191T>C rs529835831 0.00009
NM_054012.4(ASS1):c.1056C>T (p.Ser352=) rs766889925 0.00008
NM_014251.3(SLC25A13):c.1393G>T (p.Gly465Cys) rs372216502 0.00007
NM_014251.3(SLC25A13):c.6G>T (p.Ala2=) rs774562949 0.00007
NM_054012.4(ASS1):c.174+10G>A rs371597908 0.00007
NM_054012.3(ASS1):c.-242G>C rs567339064 0.00006
NM_054012.4(ASS1):c.*58C>T rs183494785 0.00006
NM_054012.4(ASS1):c.458G>A (p.Arg153Gln) rs373239430 0.00006
NM_014251.2(SLC25A13):c.-160C>T rs542691034 0.00005
NM_014251.3(SLC25A13):c.421G>A (p.Glu141Lys) rs1131697 0.00004
NM_054012.4(ASS1):c.564C>T (p.Ile188=) rs2297599 0.00004
NM_054012.4(ASS1):c.566+11C>T rs200527708 0.00004
NM_054012.3(ASS1):c.-101C>G rs886063531 0.00003
NM_054012.3(ASS1):c.-278G>T rs563156422 0.00003
NM_054012.4(ASS1):c.*110C>T rs893210689 0.00003
NM_054012.4(ASS1):c.175-4G>A rs370817871 0.00003
NM_054012.4(ASS1):c.786C>T (p.Gly262=) rs536799104 0.00003
NM_054012.4(ASS1):c.*129C>T rs886063533 0.00002
NM_054012.4(ASS1):c.929A>G (p.Lys310Arg) rs199751308 0.00002
NM_054012.4(ASS1):c.930A>G (p.Lys310=) rs200219927 0.00002
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_054012.4(ASS1):c.-5-12G>A rs770116104 0.00001
NM_054012.4(ASS1):c.1053G>A (p.Val351=) rs761241799 0.00001
NM_054012.4(ASS1):c.1074G>A (p.Val358=) rs1256882753 0.00001
NM_054012.4(ASS1):c.1083C>T (p.Leu361=) rs78564724 0.00001
NM_054012.4(ASS1):c.174+11G>A rs771403927 0.00001
NM_054012.4(ASS1):c.39C>T (p.Gly13=) rs769672308 0.00001
NM_014251.3(SLC25A13):c.*330G>T rs886062525
NM_014251.3(SLC25A13):c.*507T>C rs886062524
NM_014251.3(SLC25A13):c.-107G>A rs886062531
NM_014251.3(SLC25A13):c.-10G>A rs886062530
NM_014251.3(SLC25A13):c.-97CCG[6] rs759638459
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
NM_054012.3(ASS1):c.-146_-145dup rs886063530
NM_054012.3(ASS1):c.-185A>G rs886063528
NM_054012.3(ASS1):c.-203C>G rs886063527
NM_054012.3(ASS1):c.-217G>T rs1427339813
NM_054012.3(ASS1):c.-233G>C rs886063526
NM_054012.3(ASS1):c.-233G>T rs886063526
NM_054012.3(ASS1):c.-300G>C rs928360571
NM_054012.4(ASS1):c.*225_*228del rs886063534
NM_054012.4(ASS1):c.*244T>C rs1846749628
NM_054012.4(ASS1):c.14G>C (p.Gly5Ala) rs201700775
NM_054012.4(ASS1):c.323G>T (p.Arg108Leu) rs35269064
NM_054012.4(ASS1):c.515C>T (p.Pro172Leu) rs372078387
NM_054012.4(ASS1):c.557T>G (p.Met186Arg) rs1564151430
NM_054012.4(ASS1):c.773+4_773+31dup rs768271017
NM_054012.4(ASS1):c.846C>T (p.Tyr282=) rs549085827
NM_054012.4(ASS1):c.970+12T>A rs886063532

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