ClinVar Miner

List of variants studied for Citrullinemia type II

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Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_014251.3(SLC25A13):c.328+6A>G rs6957975 0.67687
NM_014251.3(SLC25A13):c.1194A>G (p.Leu398=) rs2301629 0.34968
NM_014251.3(SLC25A13):c.1884C>T (p.Asn628=) rs35539807 0.02629
NM_014251.3(SLC25A13):c.*175A>G rs144877897 0.01662
NM_014251.3(SLC25A13):c.1671C>T (p.Thr557=) rs79886797 0.01284
NM_014251.3(SLC25A13):c.675G>A (p.Ser225=) rs78247004 0.01022
NM_014251.3(SLC25A13):c.1374G>A (p.Val458=) rs115266882 0.00605
NM_014251.3(SLC25A13):c.*570G>A rs147716687 0.00299
NM_014251.3(SLC25A13):c.1680C>T (p.Ser560=) rs150082469 0.00244
NM_014251.3(SLC25A13):c.1434G>T (p.Gly478=) rs146111714 0.00178
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_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.2T>C (p.Met1Thr) rs541276426 0.00041
NM_014251.3(SLC25A13):c.1230A>C (p.Thr410=) rs150021522 0.00032
NM_014251.3(SLC25A13):c.*93G>A rs537886271 0.00030
NM_014251.3(SLC25A13):c.*622C>T rs575375923 0.00028
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.1354G>A (p.Val452Ile) rs143877538 0.00019
NM_014251.3(SLC25A13):c.-127G>A rs886062532 0.00018
NM_014251.3(SLC25A13):c.*729G>A rs373153995 0.00016
NM_014251.3(SLC25A13):c.408A>G (p.Leu136=) rs188486690 0.00015
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.*881T>G rs769090840 0.00011
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.6G>T (p.Ala2=) rs774562949 0.00007
NM_014251.3(SLC25A13):c.*280G>T rs1427739478 0.00006
NM_014251.3(SLC25A13):c.1813C>T (p.Arg605Ter) rs80338729 0.00006
NM_014251.3(SLC25A13):c.790G>A (p.Val264Ile) rs531991442 0.00006
NM_014251.2(SLC25A13):c.-160C>T rs542691034 0.00005
NM_014251.2(SLC25A13):c.-205G>T rs1035906140 0.00005
NM_014251.3(SLC25A13):c.635C>T (p.Ser212Phe) rs137944390 0.00005
NM_014251.3(SLC25A13):c.1267G>A (p.Asp423Asn) rs553863381 0.00004
NM_014251.3(SLC25A13):c.421G>A (p.Glu141Lys) rs1131697 0.00004
NM_014251.3(SLC25A13):c.1505C>T (p.Pro502Leu) rs139149160 0.00003
NM_014251.3(SLC25A13):c.1658G>A (p.Arg553Gln) rs201283753 0.00003
NM_014251.3(SLC25A13):c.615+5G>A rs80338717 0.00003
NM_014251.3(SLC25A13):c.*750T>C rs770563944 0.00002
NM_014251.3(SLC25A13):c.1048G>A (p.Asp350Asn) rs1312396424 0.00002
NM_014251.3(SLC25A13):c.1419C>T (p.Val473=) rs201598915 0.00002
NM_014251.3(SLC25A13):c.16-4A>G rs369564645 0.00002
NM_014251.3(SLC25A13):c.571C>T (p.Arg191Cys) rs199744651 0.00002
NM_014251.2(SLC25A13):c.-203C>A rs547594289 0.00001
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.1019-6T>C rs1207471194 0.00001
NM_014251.3(SLC25A13):c.1064G>A (p.Arg355Gln) rs398122839 0.00001
NM_014251.3(SLC25A13):c.1078C>T (p.Arg360Ter) rs80338721 0.00001
NM_014251.3(SLC25A13):c.1177+1G>A rs80338722 0.00001
NM_014251.3(SLC25A13):c.1311+1G>A rs80338723 0.00001
NM_014251.3(SLC25A13):c.1638_1660dup (p.Ala554fs) rs80338725 0.00001
NM_014251.3(SLC25A13):c.1763G>A (p.Arg588Gln) rs121908532 0.00001
NM_014251.3(SLC25A13):c.1799dup (p.Tyr600Ter) rs80338726 0.00001
NM_014251.3(SLC25A13):c.1823A>G (p.Tyr608Cys) rs754713031 0.00001
NM_014251.3(SLC25A13):c.666A>C (p.Gly222=) rs200838637 0.00001
NM_014251.3(SLC25A13):c.90C>T (p.Asn30=) rs777148254 0.00001
NM_014251.3(SLC25A13):c.*330G>T rs886062525
NM_014251.3(SLC25A13):c.*40C>T rs542828845
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.-99C>A rs972820304
NM_014251.3(SLC25A13):c.103A>G (p.Met35Val)
NM_014251.3(SLC25A13):c.1095del (p.Phe365fs) rs1794540164
NM_014251.3(SLC25A13):c.1177+5G>A rs886062527
NM_014251.3(SLC25A13):c.1210G>T (p.Glu404Ter) rs1793999476
NM_014251.3(SLC25A13):c.1307_1308delinsAA (p.Gly436Glu)
NM_014251.3(SLC25A13):c.1313C>T (p.Ala438Val) rs886062526
NM_014251.3(SLC25A13):c.1637C>T (p.Thr546Met) rs548769905
NM_014251.3(SLC25A13):c.1793T>G (p.Leu598Arg)
NM_014251.3(SLC25A13):c.1797T>A (p.Thr599=) rs757177279
NM_014251.3(SLC25A13):c.1916del (p.Gly639fs) rs1562773708
NM_014251.3(SLC25A13):c.508C>T (p.Arg170Trp) rs111674765
NM_014251.3(SLC25A13):c.633A>C (p.Thr211=) rs1794836188
NM_014251.3(SLC25A13):c.674C>A (p.Ser225Ter) rs80338719
NM_014251.3(SLC25A13):c.701G>C (p.Arg234Thr) rs986941373
NM_014251.3(SLC25A13):c.711T>C (p.Tyr237=) rs886062529
NM_014251.3(SLC25A13):c.754G>A (p.Glu252Lys) rs973986984
NM_014251.3(SLC25A13):c.852_855del (p.Met285fs) rs80338720

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