ClinVar Miner

List of variants in gene SLC25A13 reported as likely pathogenic for inborn disorder of amino acid metabolism

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 106
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HGVS dbSNP gnomAD frequency
NM_014251.3(SLC25A13):c.848+3A>C rs369402461 0.00009
NM_014251.3(SLC25A13):c.1231-1G>A rs781452100 0.00004
NM_014251.3(SLC25A13):c.1336A>C (p.Thr446Pro) rs200237622 0.00004
NM_014251.3(SLC25A13):c.127C>T (p.Arg43Ter) rs780525233 0.00003
NM_014251.3(SLC25A13):c.1505C>T (p.Pro502Leu) rs139149160 0.00003
NM_014251.3(SLC25A13):c.1048G>A (p.Asp350Asn) rs1312396424 0.00002
NM_014251.3(SLC25A13):c.1078C>T (p.Arg360Ter) rs80338721 0.00001
NM_014251.3(SLC25A13):c.1173T>G (p.Tyr391Ter) rs762925301 0.00001
NM_014251.3(SLC25A13):c.1231G>A (p.Val411Met) rs768922690 0.00001
NM_014251.3(SLC25A13):c.1637C>G (p.Thr546Arg) rs548769905 0.00001
NM_014251.3(SLC25A13):c.1677C>G (p.Tyr559Ter) rs201168119 0.00001
NM_014251.3(SLC25A13):c.1762C>T (p.Arg588Ter) rs1261058897 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.1801G>A (p.Glu601Lys) rs80338727 0.00001
NM_014251.3(SLC25A13):c.468+1G>C rs1060499612 0.00001
NM_014251.3(SLC25A13):c.70-1G>A rs962082210 0.00001
NM_014251.3(SLC25A13):c.848+1G>T rs761370420 0.00001
NC_000007.13:g.(?_95799347)_(95838299_?)dup
NC_000007.13:g.(?_95864121)_(95868662_?)del
NC_000007.13:g.(?_95906488)_(95906670_?)dup
NC_000007.13:g.(?_95906498)_(95926273_?)dup
NM_014251.3(SLC25A13):c.1039_1061delinsA (p.Tyr347fs)
NM_014251.3(SLC25A13):c.103A>G (p.Met35Val)
NM_014251.3(SLC25A13):c.1046T>C (p.Ile349Thr)
NM_014251.3(SLC25A13):c.1069C>T (p.Gln357Ter)
NM_014251.3(SLC25A13):c.1108_1109del (p.Met370fs)
NM_014251.3(SLC25A13):c.1113T>G (p.Tyr371Ter)
NM_014251.3(SLC25A13):c.1121del (p.Ser374fs) rs1584422832
NM_014251.3(SLC25A13):c.1174_1177delinsT (p.Arg392_Gly393delinsCys)
NM_014251.3(SLC25A13):c.1176_1177+1delinsT
NM_014251.3(SLC25A13):c.1177G>A (p.Gly393Ser) rs1562823061
NM_014251.3(SLC25A13):c.1178-1G>C
NM_014251.3(SLC25A13):c.1178-1G>T rs1794001446
NM_014251.3(SLC25A13):c.1210G>T (p.Glu404Ter) rs1793999476
NM_014251.3(SLC25A13):c.1307_1308delinsAA (p.Gly436Glu)
NM_014251.3(SLC25A13):c.1311+2dup
NM_014251.3(SLC25A13):c.1311C>A (p.Cys437Ter) rs879255502
NM_014251.3(SLC25A13):c.1316G>A (p.Gly439Glu)
NM_014251.3(SLC25A13):c.135G>C (p.Leu45Phe) rs1798490375
NM_014251.3(SLC25A13):c.1364G>T (p.Arg455Leu)
NM_014251.3(SLC25A13):c.1452+1G>A rs2116481274
NM_014251.3(SLC25A13):c.1453-1G>C
NM_014251.3(SLC25A13):c.1498del (p.Tyr500fs)
NM_014251.3(SLC25A13):c.1549C>T (p.Gln517Ter)
NM_014251.3(SLC25A13):c.1591+1G>A
NM_014251.3(SLC25A13):c.1592G>A (p.Gly531Asp) rs80338724
NM_014251.3(SLC25A13):c.1615dup (p.Thr539fs)
NM_014251.3(SLC25A13):c.1637C>T (p.Thr546Met) rs548769905
NM_014251.3(SLC25A13):c.1637del (p.Thr546fs)
NM_014251.3(SLC25A13):c.1658_1661dup (p.Gln556fs) rs2116384200
NM_014251.3(SLC25A13):c.1676dup (p.Tyr559Ter)
NM_014251.3(SLC25A13):c.1688_1689del (p.Ile563fs)
NM_014251.3(SLC25A13):c.1750+1G>C rs771583670
NM_014251.3(SLC25A13):c.1750+1G>T
NM_014251.3(SLC25A13):c.1750+2T>C
NM_014251.3(SLC25A13):c.1769C>A (p.Ser590Ter)
NM_014251.3(SLC25A13):c.1796_1802del (p.Thr599fs)
NM_014251.3(SLC25A13):c.1817G>A (p.Trp606Ter)
NM_014251.3(SLC25A13):c.1824dup (p.Ile609fs)
NM_014251.3(SLC25A13):c.1841+1G>T
NM_014251.3(SLC25A13):c.1841+3_1841+4del
NM_014251.3(SLC25A13):c.213-1G>C
NM_014251.3(SLC25A13):c.213-2A>C
NM_014251.3(SLC25A13):c.213-2A>G
NM_014251.3(SLC25A13):c.220del (p.Ser74fs)
NM_014251.3(SLC25A13):c.229G>T (p.Glu77Ter) rs1254503252
NM_014251.3(SLC25A13):c.231_240del (p.Glu77fs)
NM_014251.3(SLC25A13):c.247del (p.Ser83fs)
NM_014251.3(SLC25A13):c.264del (p.Asp89fs)
NM_014251.3(SLC25A13):c.276del (p.Phe92fs) rs2116815571
NM_014251.3(SLC25A13):c.328+1G>T rs1796684525
NM_014251.3(SLC25A13):c.329-1G>A
NM_014251.3(SLC25A13):c.329-2A>G
NM_014251.3(SLC25A13):c.331_334delinsAGAAACTCT (p.Asp111fs)
NM_014251.3(SLC25A13):c.353del (p.Gln118fs)
NM_014251.3(SLC25A13):c.415G>A (p.Gly139Arg) rs1269555090
NM_014251.3(SLC25A13):c.429_430del (p.Arg144fs) rs2116717319
NM_014251.3(SLC25A13):c.469-2A>G
NM_014251.3(SLC25A13):c.505C>T (p.Gln169Ter)
NM_014251.3(SLC25A13):c.528dup (p.Arg177fs) rs1794924933
NM_014251.3(SLC25A13):c.571del (p.Arg191fs) rs1482630982
NM_014251.3(SLC25A13):c.577dup (p.His193fs)
NM_014251.3(SLC25A13):c.587_588insAA (p.Pro197fs)
NM_014251.3(SLC25A13):c.605_608dup (p.Val204fs) rs762941850
NM_014251.3(SLC25A13):c.671del (p.Asn224fs)
NM_014251.3(SLC25A13):c.699del (p.Arg234fs) rs1584433525
NM_014251.3(SLC25A13):c.70-1G>T rs962082210
NM_014251.3(SLC25A13):c.70-2A>T
NM_014251.3(SLC25A13):c.72T>G (p.Tyr24Ter)
NM_014251.3(SLC25A13):c.74C>A (p.Ala25Glu)
NM_014251.3(SLC25A13):c.754G>A (p.Glu252Lys) rs973986984
NM_014251.3(SLC25A13):c.755-1G>C
NM_014251.3(SLC25A13):c.762_765del (p.Val255fs)
NM_014251.3(SLC25A13):c.762del (p.Phe254fs)
NM_014251.3(SLC25A13):c.836_837del (p.Leu278_Tyr279insTer)
NM_014251.3(SLC25A13):c.848+1del
NM_014251.3(SLC25A13):c.869T>C (p.Ile290Thr)
NM_014251.3(SLC25A13):c.889del (p.Glu297fs)
NM_014251.3(SLC25A13):c.89dup (p.Asn30fs)
NM_014251.3(SLC25A13):c.925C>T (p.Gln309Ter)
NM_014251.3(SLC25A13):c.931C>T (p.Gln311Ter)
NM_014251.3(SLC25A13):c.934-2A>T rs1794574986
NM_014251.3(SLC25A13):c.970C>T (p.Gln324Ter) rs1012084121
NM_014251.3(SLC25A13):c.990C>A (p.Tyr330Ter)
NM_014251.3:c.468+4958_502del

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