ClinVar Miner

List of variants in gene SLC25A13 reported as pathogenic for amino acid metabolism disease

Included ClinVar conditions (436):
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Gene type:
ClinVar version:
Total variants: 122
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HGVS dbSNP gnomAD frequency
NM_014251.3(SLC25A13):c.848+3A>C rs369402461 0.00009
NM_014251.3(SLC25A13):c.1813C>T (p.Arg605Ter) rs80338729 0.00006
NM_014251.3(SLC25A13):c.1231-1G>A rs781452100 0.00004
NM_014251.3(SLC25A13):c.1063C>T (p.Arg355Ter) rs758827458 0.00003
NM_014251.3(SLC25A13):c.127C>T (p.Arg43Ter) rs780525233 0.00003
NM_014251.3(SLC25A13):c.615+5G>A rs80338717 0.00003
NM_014251.3(SLC25A13):c.1048G>A (p.Asp350Asn) rs1312396424 0.00002
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.1173T>G (p.Tyr391Ter) rs762925301 0.00001
NM_014251.3(SLC25A13):c.1177+1G>A rs80338722 0.00001
NM_014251.3(SLC25A13):c.1231G>A (p.Val411Met) rs768922690 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.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.550C>T (p.Arg184Ter) rs80338716 0.00001
NM_014251.3(SLC25A13):c.70-1G>A rs962082210 0.00001
NM_014251.3(SLC25A13):c.848+1G>T rs761370420 0.00001
NM_014251.3(SLC25A13):c.955C>T (p.Arg319Ter) rs763191789 0.00001
NC_000007.13:g.(?_95749522)_(95751319_?)del
NC_000007.13:g.(?_95761045)_(95761203_?)dup
NC_000007.13:g.(?_95799347)_(95800846_?)del
NC_000007.13:g.(?_95812693)_(95813744_?)del
NC_000007.13:g.(?_95838130)_(95838309_?)del
NC_000007.13:g.(?_95838140)_(95838299_?)del
NC_000007.13:g.(?_95906498)_(95906660_?)del
NC_000007.14:g.(?_96191099)_(96193193_?)del
NC_000007.14:g.(?_96234792)_(96234927_?)del
NM_014251.3(SLC25A13):c.1063C>G (p.Arg355Gly) rs758827458
NM_014251.3(SLC25A13):c.1075C>T (p.Gln359Ter) rs1794541339
NM_014251.3(SLC25A13):c.1095del (p.Phe365fs) rs1794540164
NM_014251.3(SLC25A13):c.111del (p.Asn38fs) rs2116939333
NM_014251.3(SLC25A13):c.1164del (p.Phe388fs)
NM_014251.3(SLC25A13):c.1173dup (p.Arg392Ter) rs1794536022
NM_014251.3(SLC25A13):c.1193T>A (p.Leu398Ter)
NM_014251.3(SLC25A13):c.1193del (p.Leu398fs)
NM_014251.3(SLC25A13):c.1196T>A (p.Leu399Ter) rs1004549438
NM_014251.3(SLC25A13):c.1228dup (p.Thr410fs) rs1286193203
NM_014251.3(SLC25A13):c.1230+1G>A
NM_014251.3(SLC25A13):c.124del (p.Thr42fs) rs2116939236
NM_014251.3(SLC25A13):c.1258del (p.Met420fs)
NM_014251.3(SLC25A13):c.1307G>A (p.Gly436Asp)
NM_014251.3(SLC25A13):c.1311+1G>C
NM_014251.3(SLC25A13):c.1311C>A (p.Cys437Ter) rs879255502
NM_014251.3(SLC25A13):c.1324C>T (p.Gln442Ter) rs2116482158
NM_014251.3(SLC25A13):c.132C>G (p.Tyr44Ter) rs2116939192
NM_014251.3(SLC25A13):c.135G>C (p.Leu45Phe) rs1798490375
NM_014251.3(SLC25A13):c.1375del (p.Ala459fs) rs1178306013
NM_014251.3(SLC25A13):c.1399C>T (p.Arg467Ter) rs540149539
NM_014251.3(SLC25A13):c.1416_1419del (p.Val473fs) rs773624358
NM_014251.3(SLC25A13):c.1449C>A (p.Tyr483Ter) rs1792801432
NM_014251.3(SLC25A13):c.1453-1G>A rs1792048079
NM_014251.3(SLC25A13):c.1453-2A>G
NM_014251.3(SLC25A13):c.1453-2A>T rs2116426311
NM_014251.3(SLC25A13):c.1474C>T (p.Arg492Trp)
NM_014251.3(SLC25A13):c.1486_1489del (p.Phe496fs) rs756182703
NM_014251.3(SLC25A13):c.152del (p.Ser51fs)
NM_014251.3(SLC25A13):c.16-2A>G rs1799374421
NM_014251.3(SLC25A13):c.1603_1609dup (p.Leu537fs) rs1791532136
NM_014251.3(SLC25A13):c.1610_1612delinsAT (p.Leu537fs)
NM_014251.3(SLC25A13):c.1610del (p.Ser536_Leu537insTer) rs750225643
NM_014251.3(SLC25A13):c.1612del (p.Leu537_Val538insTer) rs2116384695
NM_014251.3(SLC25A13):c.1622C>A (p.Ala541Asp)
NM_014251.3(SLC25A13):c.1633_1637dup (p.Leu548fs) rs2116384455
NM_014251.3(SLC25A13):c.1643T>G (p.Leu548Ter)
NM_014251.3(SLC25A13):c.1658_1661dup (p.Gln556fs) rs2116384200
NM_014251.3(SLC25A13):c.1664_1665insAGATTACAGGTGGCTGCCCGGGG (p.Gln556fs) rs1562774655
NM_014251.3(SLC25A13):c.1676dup (p.Tyr559Ter)
NM_014251.3(SLC25A13):c.1677C>A (p.Tyr559Ter)
NM_014251.3(SLC25A13):c.1712del (p.Arg571fs) rs1554335461
NM_014251.3(SLC25A13):c.1736G>A (p.Trp579Ter)
NM_014251.3(SLC25A13):c.173_174del (p.Val58fs) rs1798487766
NM_014251.3(SLC25A13):c.1751-5_1751-4insGATTTCTCCA
NM_014251.3(SLC25A13):c.1751-5_1751-4insGATTTCTCCATTTTTTTTTTTTTTTTTNNNNNNNNNNGTCCCCCCGCCCCCCGAGCCCGAACCCCTTTCCACTGCCAACACCTCACCTCGCCCCCGCCGCCATCTTCCTCCTCCCTTGGCAGCCCCGCCCCCC
NM_014251.3(SLC25A13):c.175del (p.Glu59fs)
NM_014251.3(SLC25A13):c.1769C>A (p.Ser590Ter)
NM_014251.3(SLC25A13):c.1800C>A (p.Tyr600Ter)
NM_014251.3(SLC25A13):c.1801G>T (p.Glu601Ter) rs80338727
NM_014251.3(SLC25A13):c.229G>T (p.Glu77Ter) rs1254503252
NM_014251.3(SLC25A13):c.276del (p.Phe92fs) rs2116815571
NM_014251.3(SLC25A13):c.27del (p.Lys10fs)
NM_014251.3(SLC25A13):c.363del (p.His122fs)
NM_014251.3(SLC25A13):c.415_428del (p.Gly139fs)
NM_014251.3(SLC25A13):c.420del (p.Glu141fs) rs1562844289
NM_014251.3(SLC25A13):c.429_430del (p.Arg144fs) rs2116717319
NM_014251.3(SLC25A13):c.457C>T (p.Gln153Ter) rs2116717136
NM_014251.3(SLC25A13):c.475C>T (p.Gln159Ter) rs2116663520
NM_014251.3(SLC25A13):c.493C>T (p.Gln165Ter) rs1562831765
NM_014251.3(SLC25A13):c.495del (p.Ala166fs) rs879255504
NM_014251.3(SLC25A13):c.528dup (p.Arg177fs) rs1794924933
NM_014251.3(SLC25A13):c.535dup (p.Thr179fs)
NM_014251.3(SLC25A13):c.550del (p.Arg184fs)
NM_014251.3(SLC25A13):c.571del (p.Arg191fs) rs1482630982
NM_014251.3(SLC25A13):c.605_608dup (p.Val204fs) rs762941850
NM_014251.3(SLC25A13):c.607_611dup (p.Val204_Ala205insTer) rs1794918929
NM_014251.3(SLC25A13):c.615+1G>A
NM_014251.3(SLC25A13):c.640C>T (p.Gln214Ter) rs2116656505
NM_014251.3(SLC25A13):c.65_66insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGAACAATATTTTT (p.Leu22delinsPhePhePhePhePhePhePheXaaXaaXaaXaaProArgProProLysValLeuGlyLeuGlnAlaTer)
NM_014251.3(SLC25A13):c.66_67insC (p.Lys23fs) rs1255908000
NM_014251.3(SLC25A13):c.674C>A (p.Ser225Ter) rs80338719
NM_014251.3(SLC25A13):c.687del (p.Asn229fs)
NM_014251.3(SLC25A13):c.69+5G>A rs1319034578
NM_014251.3(SLC25A13):c.70-12_72del
NM_014251.3(SLC25A13):c.70-63_132del
NM_014251.3(SLC25A13):c.754G>A (p.Glu252Lys) rs973986984
NM_014251.3(SLC25A13):c.775C>T (p.Gln259Ter) rs746155190
NM_014251.3(SLC25A13):c.792del (p.Thr265fs) rs2116650029
NM_014251.3(SLC25A13):c.848+1G>A rs761370420
NM_014251.3(SLC25A13):c.848+1del
NM_014251.3(SLC25A13):c.852_855del (p.Met285fs) rs80338720
NM_014251.3(SLC25A13):c.881_894del (p.Ala294fs)
NM_014251.3(SLC25A13):c.89dup (p.Asn30fs)
NM_014251.3(SLC25A13):c.919G>T (p.Glu307Ter)
NM_014251.3(SLC25A13):c.94G>T (p.Glu32Ter) rs2116939424
NM_014251.3(SLC25A13):c.970C>T (p.Gln324Ter) rs1012084121
NM_014251.3(SLC25A13):c.979G>T (p.Glu327Ter)
NM_014251.3(SLC25A13):c.980_981del (p.Glu327fs) rs764401478
NM_014251.3(SLC25A13):c.990C>A (p.Tyr330Ter)
NM_014251.3(SLC25A13):c.[1956C>A;1962del]

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