ClinVar Miner

List of variants reported as uncertain significance for citrin deficiency

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 141
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HGVS dbSNP gnomAD frequency
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.1618C>T (p.Pro540Ser) rs75622628 0.00052
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.1681G>A (p.Gly561Arg) rs142801864 0.00025
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.934-3C>T rs767051127 0.00011
NM_014251.3(SLC25A13):c.1814G>A (p.Arg605Gln) rs548194276 0.00010
NM_014251.3(SLC25A13):c.*191T>C rs529835831 0.00009
NM_014251.3(SLC25A13):c.848G>A (p.Gly283Glu) rs544756381 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_014251.3(SLC25A13):c.*280G>T rs1427739478 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.1079G>A (p.Arg360Gln) rs918547530 0.00005
NM_014251.3(SLC25A13):c.1754G>A (p.Arg585His) rs367770143 0.00005
NM_014251.3(SLC25A13):c.454A>G (p.Thr152Ala) rs146131228 0.00005
NM_014251.3(SLC25A13):c.551G>A (p.Arg184Gln) rs142427515 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.1475G>A (p.Arg492Gln) rs769939259 0.00004
NM_014251.3(SLC25A13):c.421G>A (p.Glu141Lys) rs1131697 0.00004
NM_014251.3(SLC25A13):c.1063C>T (p.Arg355Ter) rs758827458 0.00003
NM_014251.3(SLC25A13):c.1311C>T (p.Cys437=) rs879255502 0.00003
NM_014251.3(SLC25A13):c.1505C>T (p.Pro502Leu) rs139149160 0.00003
NM_014251.3(SLC25A13):c.158C>T (p.Pro53Leu) rs753950441 0.00003
NM_014251.3(SLC25A13):c.1658G>A (p.Arg553Gln) rs201283753 0.00003
NM_014251.3(SLC25A13):c.1711C>T (p.Arg571Cys) rs753626243 0.00003
NM_014251.3(SLC25A13):c.*750T>C rs770563944 0.00002
NM_014251.3(SLC25A13):c.1157G>C (p.Gly386Ala) rs776461118 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.1631T>C (p.Ile544Thr) rs754054414 0.00002
NM_014251.3(SLC25A13):c.332A>G (p.Asp111Gly) rs766809778 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.1147C>T (p.Arg383Cys) rs983514448 0.00001
NM_014251.3(SLC25A13):c.1438T>C (p.Phe480Leu) rs759905821 0.00001
NM_014251.3(SLC25A13):c.15+5C>T rs907269562 0.00001
NM_014251.3(SLC25A13):c.1547G>A (p.Gly516Glu) rs763244253 0.00001
NM_014251.3(SLC25A13):c.1637C>G (p.Thr546Arg) rs548769905 0.00001
NM_014251.3(SLC25A13):c.1660G>A (p.Ala554Thr) rs774907889 0.00001
NM_014251.3(SLC25A13):c.173T>C (p.Val58Ala) rs1397231627 0.00001
NM_014251.3(SLC25A13):c.1823A>G (p.Tyr608Cys) rs754713031 0.00001
NM_014251.3(SLC25A13):c.185G>A (p.Ser62Asn) rs577901657 0.00001
NM_014251.3(SLC25A13):c.1958A>G (p.Lys653Arg) rs879255501 0.00001
NM_014251.3(SLC25A13):c.318A>G (p.Glu106=) rs772488794 0.00001
NM_014251.3(SLC25A13):c.666A>C (p.Gly222=) rs200838637 0.00001
NM_014251.3(SLC25A13):c.710A>G (p.Tyr237Cys) rs748764269 0.00001
NM_014251.3(SLC25A13):c.73G>A (p.Ala25Thr) rs759288496 0.00001
NM_014251.3(SLC25A13):c.809A>G (p.Asp270Gly) rs751343245 0.00001
NM_014251.3(SLC25A13):c.874C>T (p.Arg292Trp) rs142308242 0.00001
NM_014251.3(SLC25A13):c.90C>T (p.Asn30=) rs777148254 0.00001
NM_014251.3(SLC25A13):c.916G>A (p.Ala306Thr) rs1365501165 0.00001
NM_014251.3(SLC25A13):c.922G>A (p.Ala308Thr) rs922613966 0.00001
NC_000007.13:g.(?_95906488)_(95951268_?)dup
NC_000007.14:g.(?_96121171)_(96321976_?)dup
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.-97CCG[6] rs759638459
NM_014251.3(SLC25A13):c.-99C>A rs972820304
NM_014251.3(SLC25A13):c.1012G>C (p.Ala338Pro) rs2116631318
NM_014251.3(SLC25A13):c.107C>G (p.Ser36Cys) rs1447976736
NM_014251.3(SLC25A13):c.110C>G (p.Pro37Arg)
NM_014251.3(SLC25A13):c.1151A>T (p.Tyr384Phe) rs1197228945
NM_014251.3(SLC25A13):c.1177+5G>A rs886062527
NM_014251.3(SLC25A13):c.1256T>G (p.Phe419Cys) rs2116577055
NM_014251.3(SLC25A13):c.1274C>T (p.Ser425Leu)
NM_014251.3(SLC25A13):c.1312-12del rs771217878
NM_014251.3(SLC25A13):c.1313C>T (p.Ala438Val) rs886062526
NM_014251.3(SLC25A13):c.1340A>G (p.Asn447Ser)
NM_014251.3(SLC25A13):c.1349A>G (p.Glu450Gly)
NM_014251.3(SLC25A13):c.135G>C (p.Leu45Phe) rs1798490375
NM_014251.3(SLC25A13):c.1400G>A (p.Arg467Gln)
NM_014251.3(SLC25A13):c.1411C>G (p.Leu471Val)
NM_014251.3(SLC25A13):c.1415C>T (p.Ser472Phe) rs749990010
NM_014251.3(SLC25A13):c.1420G>A (p.Val474Met) rs554809009
NM_014251.3(SLC25A13):c.1420G>C (p.Val474Leu)
NM_014251.3(SLC25A13):c.1424G>A (p.Arg475Gln)
NM_014251.3(SLC25A13):c.1433G>A (p.Gly478Glu) rs1792802405
NM_014251.3(SLC25A13):c.1448A>G (p.Tyr483Cys)
NM_014251.3(SLC25A13):c.1452+5C>G
NM_014251.3(SLC25A13):c.1453-3C>T
NM_014251.3(SLC25A13):c.1495A>G (p.Ile499Val) rs1388764303
NM_014251.3(SLC25A13):c.1591+4A>G
NM_014251.3(SLC25A13):c.1653_1655del (p.Ala552del) rs781077173
NM_014251.3(SLC25A13):c.1666_1842-31del rs2116381204
NM_014251.3(SLC25A13):c.1712G>A (p.Arg571His)
NM_014251.3(SLC25A13):c.1797T>A (p.Thr599=) rs757177279
NM_014251.3(SLC25A13):c.1818G>T (p.Trp606Cys) rs893906065
NM_014251.3(SLC25A13):c.1833del (p.Phe611fs) rs1791512056
NM_014251.3(SLC25A13):c.1894C>T (p.Pro632Ser) rs2116380826
NM_014251.3(SLC25A13):c.1895C>T (p.Pro632Leu)
NM_014251.3(SLC25A13):c.1916del (p.Gly639fs) rs1562773708
NM_014251.3(SLC25A13):c.1955A>G (p.Asn652Ser)
NM_014251.3(SLC25A13):c.2026T>C (p.Ter676Gln)
NM_014251.3(SLC25A13):c.308G>A (p.Gly103Asp) rs2116815391
NM_014251.3(SLC25A13):c.416G>A (p.Gly139Glu)
NM_014251.3(SLC25A13):c.508C>T (p.Arg170Trp) rs111674765
NM_014251.3(SLC25A13):c.517G>T (p.Ala173Ser) rs1387446179
NM_014251.3(SLC25A13):c.53G>C (p.Arg18Thr)
NM_014251.3(SLC25A13):c.580G>A (p.Val194Ile)
NM_014251.3(SLC25A13):c.595G>A (p.Val199Ile) rs2116662640
NM_014251.3(SLC25A13):c.614C>T (p.Ala205Val) rs1562831497
NM_014251.3(SLC25A13):c.616-11A>G rs879255503
NM_014251.3(SLC25A13):c.633A>C (p.Thr211=) rs1794836188
NM_014251.3(SLC25A13):c.655T>C (p.Tyr219His)
NM_014251.3(SLC25A13):c.688A>G (p.Met230Val) rs767411822
NM_014251.3(SLC25A13):c.69+5G>C
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.79A>G (p.Ile27Val) rs1798494534
NM_014251.3(SLC25A13):c.848+10del rs886062528
NM_014251.3(SLC25A13):c.850C>T (p.Arg284Cys)
NM_014251.3(SLC25A13):c.91G>A (p.Gly31Ser)
NM_014251.3(SLC25A13):c.977C>T (p.Ala326Val)

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