ClinVar Miner

List of variants reported as uncertain significance for citrin deficiency by Invitae

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 77
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HGVS dbSNP gnomAD frequency
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.1681G>A (p.Gly561Arg) rs142801864 0.00025
NM_014251.3(SLC25A13):c.1945G>C (p.Gly649Arg) rs757317844 0.00013
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.848G>A (p.Gly283Glu) rs544756381 0.00008
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.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.1311C>T (p.Cys437=) rs879255502 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.1631T>C (p.Ile544Thr) rs754054414 0.00002
NM_014251.3(SLC25A13):c.332A>G (p.Asp111Gly) rs766809778 0.00002
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.1660G>A (p.Ala554Thr) rs774907889 0.00001
NM_014251.3(SLC25A13):c.173T>C (p.Val58Ala) rs1397231627 0.00001
NM_014251.3(SLC25A13):c.185G>A (p.Ser62Asn) rs577901657 0.00001
NM_014251.3(SLC25A13):c.318A>G (p.Glu106=) rs772488794 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.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.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.1256T>G (p.Phe419Cys) rs2116577055
NM_014251.3(SLC25A13):c.1274C>T (p.Ser425Leu)
NM_014251.3(SLC25A13):c.1340A>G (p.Asn447Ser)
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.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.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.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.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.688A>G (p.Met230Val) rs767411822
NM_014251.3(SLC25A13):c.69+5G>C
NM_014251.3(SLC25A13):c.79A>G (p.Ile27Val) rs1798494534
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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