List of variants reported as uncertain significance for Citrin deficiency by Labcorp Genetics (formerly Invitae), Labcorp

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 82

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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	0.00026
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.158C>T (p.Pro53Leu)	rs753950441	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.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.1243G>A (p.Val415Met)
NM_014251.3(SLC25A13):c.1256T>G (p.Phe419Cys)	rs2116577055
NM_014251.3(SLC25A13):c.1271G>A (p.Gly424Asp)
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.172G>A (p.Val58Met)
NM_014251.3(SLC25A13):c.1818G>T (p.Trp606Cys)	rs893906065
NM_014251.3(SLC25A13):c.1828G>C (p.Asp610His)
NM_014251.3(SLC25A13):c.1833del (p.Phe611fs)	rs1791512056
NM_014251.3(SLC25A13):c.1889C>A (p.Pro630His)
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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