ClinVar Miner

List of variants in gene SLC25A22 studied for epilepsy

Included ClinVar conditions (435):
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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 494
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HGVS dbSNP gnomAD frequency
NM_001191061.2(SLC25A22):c.*453C>T rs4963153 0.38209
NM_001191061.2(SLC25A22):c.234C>T (p.Pro78=) rs80335370 0.09454
NM_001191061.2(SLC25A22):c.*906G>A rs118051043 0.08987
NM_001191061.2(SLC25A22):c.448C>G (p.Leu150Val) rs111277421 0.06224
NM_001191061.2(SLC25A22):c.-163-868T>C rs111520133 0.06071
NM_001191061.2(SLC25A22):c.*1153C>T rs17156064 0.04015
NM_001191061.2(SLC25A22):c.561C>T (p.Tyr187=) rs77117049 0.03987
NM_001191061.2(SLC25A22):c.412+10G>T rs113091974 0.03661
NM_001191061.2(SLC25A22):c.-163-881C>T rs115490180 0.02548
NM_001191061.2(SLC25A22):c.*436C>T rs112476979 0.02124
NM_001191061.2(SLC25A22):c.-141G>A rs79919483 0.01938
NM_001191061.2(SLC25A22):c.*841A>T rs116673603 0.00811
NM_001191061.2(SLC25A22):c.*712T>C rs114476401 0.00732
NM_001191061.2(SLC25A22):c.*107G>A rs4963152 0.00380
NM_001191061.2(SLC25A22):c.705T>C (p.Ala235=) rs142861804 0.00262
NM_001191061.2(SLC25A22):c.500G>A (p.Arg167Gln) rs201089795 0.00248
NM_001191061.2(SLC25A22):c.151G>A (p.Asp51Asn) rs116134953 0.00210
NM_001191061.2(SLC25A22):c.169G>A (p.Val57Ile) rs150242281 0.00204
NM_001191061.2(SLC25A22):c.*328C>T rs187161044 0.00195
NM_001191061.2(SLC25A22):c.-163-948C>T rs565178069 0.00178
NM_001191061.2(SLC25A22):c.570C>T (p.Leu190=) rs145322467 0.00137
NM_001191061.2(SLC25A22):c.*940T>C rs543726213 0.00132
NM_001191061.2(SLC25A22):c.618G>A (p.Pro206=) rs150544061 0.00118
NM_001191061.2(SLC25A22):c.585C>T (p.Leu195=) rs147840220 0.00103
NM_001191061.2(SLC25A22):c.132C>T (p.Arg44=) rs146402942 0.00096
NM_001191061.2(SLC25A22):c.*1431T>A rs529018067 0.00088
NM_001191061.2(SLC25A22):c.140C>T (p.Thr47Met) rs142220309 0.00068
NM_001191061.2(SLC25A22):c.*1057C>A rs375049082 0.00067
NM_001191061.2(SLC25A22):c.*171G>A rs771093127 0.00064
NM_001191061.2(SLC25A22):c.495C>T (p.Ala165=) rs374780430 0.00063
NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=) rs146300431 0.00058
NM_001191061.2(SLC25A22):c.327G>A (p.Ala109=) rs141975755 0.00049
NM_001191061.2(SLC25A22):c.*760G>A rs139397585 0.00046
NM_001191061.2(SLC25A22):c.743-12C>T rs200517971 0.00041
NM_001191061.2(SLC25A22):c.*753G>A rs544567754 0.00036
NM_001191061.2(SLC25A22):c.413-8G>C rs376015598 0.00032
NM_001191061.2(SLC25A22):c.-163-989C>T rs753425944 0.00031
NM_001191061.2(SLC25A22):c.294-13G>A rs201472482 0.00030
NM_001191061.2(SLC25A22):c.64G>A (p.Gly22Ser) rs757575372 0.00028
NM_001191061.2(SLC25A22):c.51C>T (p.Ile17=) rs566076909 0.00025
NM_001191061.2(SLC25A22):c.267C>G (p.Phe89Leu) rs143064022 0.00024
NM_001191061.2(SLC25A22):c.679G>A (p.Val227Met) rs200603610 0.00024
NM_001191061.2(SLC25A22):c.*693G>C rs375467519 0.00022
NM_001191061.2(SLC25A22):c.*1301C>T rs575292705 0.00021
NM_001191061.2(SLC25A22):c.-163-901C>T rs963600903 0.00016
NM_001191061.2(SLC25A22):c.-163-947G>A rs374678084 0.00016
NM_001191061.2(SLC25A22):c.464G>C (p.Gly155Ala) rs200992080 0.00016
NM_001191061.2(SLC25A22):c.678C>T (p.Tyr226=) rs200072903 0.00015
NM_001191061.2(SLC25A22):c.*1084C>G rs768779780 0.00014
NM_001191061.2(SLC25A22):c.-155T>C rs886048702 0.00014
NM_001191061.2(SLC25A22):c.653C>T (p.Ala218Val) rs150645806 0.00014
NM_001191061.2(SLC25A22):c.742+9A>G rs370309722 0.00014
NM_001191061.2(SLC25A22):c.930C>T (p.Ile310=) rs765908991 0.00014
NM_001191061.2(SLC25A22):c.897C>T (p.Phe299=) rs7124179 0.00013
NM_001191061.2(SLC25A22):c.647G>A (p.Arg216His) rs201932343 0.00012
NM_001191061.2(SLC25A22):c.-93C>G rs886048699 0.00011
NM_001191061.2(SLC25A22):c.147-10T>G rs779613015 0.00011
NM_001191061.2(SLC25A22):c.506C>T (p.Thr169Met) rs533726078 0.00011
NM_001191061.2(SLC25A22):c.834C>T (p.His278=) rs187824231 0.00011
NM_001191061.2(SLC25A22):c.*711G>A rs111723529 0.00010
NM_001191061.2(SLC25A22):c.414C>T (p.Ala138=) rs199887745 0.00010
NM_001191061.2(SLC25A22):c.-151G>A rs587781167 0.00009
NM_001191061.2(SLC25A22):c.177C>T (p.Ser59=) rs761165876 0.00009
NM_001191061.2(SLC25A22):c.412+9G>A rs369276282 0.00009
NM_001191061.2(SLC25A22):c.413-12C>T rs587781169 0.00009
NM_001191061.2(SLC25A22):c.579G>A (p.Thr193=) rs141430143 0.00009
NM_001191061.2(SLC25A22):c.146+6T>C rs369906148 0.00008
NM_001191061.2(SLC25A22):c.651G>A (p.Pro217=) rs768604742 0.00008
NM_001191061.2(SLC25A22):c.75C>T (p.Cys25=) rs764930724 0.00008
NM_001191061.2(SLC25A22):c.819-15G>A rs546478081 0.00008
NM_001191061.2(SLC25A22):c.830G>A (p.Arg277Gln) rs777614945 0.00008
NM_001191061.2(SLC25A22):c.-163-898G>A rs886048704 0.00007
NM_001191061.2(SLC25A22):c.123C>T (p.Asn41=) rs544915540 0.00007
NM_001191061.2(SLC25A22):c.124G>A (p.Gly42Ser) rs535927522 0.00007
NM_001191061.2(SLC25A22):c.146+12G>A rs765814353 0.00007
NM_001191061.2(SLC25A22):c.150C>T (p.Ser50=) rs201574228 0.00007
NM_001191061.2(SLC25A22):c.293+6G>A rs375955950 0.00007
NM_001191061.2(SLC25A22):c.294-20C>T rs755464940 0.00007
NM_001191061.2(SLC25A22):c.743-16C>T rs200493024 0.00007
NM_001191061.2(SLC25A22):c.*1277C>T rs191455128 0.00006
NM_001191061.2(SLC25A22):c.-163-917G>C rs868674335 0.00006
NM_001191061.2(SLC25A22):c.146+11C>T rs372685549 0.00006
NM_001191061.2(SLC25A22):c.207T>G (p.Ala69=) rs527440140 0.00006
NM_001191061.2(SLC25A22):c.46G>A (p.Gly16Ser) rs149569043 0.00006
NM_001191061.2(SLC25A22):c.551C>G (p.Ala184Gly) rs755147242 0.00006
NM_001191061.2(SLC25A22):c.693C>T (p.Ala231=) rs530935116 0.00006
NM_001191061.2(SLC25A22):c.777C>T (p.Gly259=) rs373332611 0.00006
NM_001191061.2(SLC25A22):c.-163-1027C>G rs886048705 0.00005
NM_001191061.2(SLC25A22):c.-163-1053T>G rs1222931354 0.00005
NM_001191061.2(SLC25A22):c.146+7G>A rs376889561 0.00005
NM_001191061.2(SLC25A22):c.222C>T (p.Thr74=) rs1476954002 0.00005
NM_001191061.2(SLC25A22):c.415G>A (p.Ala139Thr) rs544386351 0.00005
NM_001191061.2(SLC25A22):c.493G>A (p.Ala165Thr) rs763227728 0.00005
NM_001191061.2(SLC25A22):c.783C>T (p.Asn261=) rs760890948 0.00005
NM_001191061.2(SLC25A22):c.819-16C>T rs572751087 0.00005
NM_001191061.2(SLC25A22):c.*17A>C rs554507285 0.00004
NM_001191061.2(SLC25A22):c.-130C>G rs886048700 0.00004
NM_001191061.2(SLC25A22):c.143G>A (p.Ser48Asn) rs757713622 0.00004
NM_001191061.2(SLC25A22):c.202+14C>T rs587781168 0.00004
NM_001191061.2(SLC25A22):c.21-15C>T rs759055009 0.00004
NM_001191061.2(SLC25A22):c.468C>T (p.Ala156=) rs764277856 0.00004
NM_001191061.2(SLC25A22):c.536G>A (p.Arg179Gln) rs756506540 0.00004
NM_001191061.2(SLC25A22):c.541C>T (p.Arg181Cys) rs374216522 0.00004
NM_001191061.2(SLC25A22):c.553G>A (p.Gly185Ser) rs761249044 0.00004
NM_001191061.2(SLC25A22):c.562A>G (p.Lys188Glu) rs767949941 0.00004
NM_001191061.2(SLC25A22):c.636C>T (p.Asn212=) rs760280356 0.00004
NM_001191061.2(SLC25A22):c.650C>T (p.Pro217Leu) rs139555989 0.00004
NM_001191061.2(SLC25A22):c.702G>A (p.Val234=) rs750034215 0.00004
NM_001191061.2(SLC25A22):c.717C>T (p.Ala239=) rs545592967 0.00004
NM_001191061.2(SLC25A22):c.726C>T (p.Ala242=) rs771026197 0.00004
NM_001191061.2(SLC25A22):c.885C>T (p.Ile295=) rs543285265 0.00004
NM_001191061.2(SLC25A22):c.888G>A (p.Ala296=) rs768252518 0.00004
NM_001191061.2(SLC25A22):c.-163-874G>A rs1334003817 0.00003
NM_001191061.2(SLC25A22):c.-72T>A rs533586625 0.00003
NM_001191061.2(SLC25A22):c.133G>A (p.Val45Met) rs570016062 0.00003
NM_001191061.2(SLC25A22):c.15G>A (p.Gln5=) rs370880055 0.00003
NM_001191061.2(SLC25A22):c.190G>A (p.Gly64Ser) rs774766308 0.00003
NM_001191061.2(SLC25A22):c.20+7C>T rs376421164 0.00003
NM_001191061.2(SLC25A22):c.292G>A (p.Gly98Arg) rs781514122 0.00003
NM_001191061.2(SLC25A22):c.294-14C>T rs200362178 0.00003
NM_001191061.2(SLC25A22):c.45C>T (p.Gly15=) rs748378875 0.00003
NM_001191061.2(SLC25A22):c.474C>T (p.Pro158=) rs556959164 0.00003
NM_001191061.2(SLC25A22):c.525C>T (p.Arg175=) rs368124957 0.00003
NM_001191061.2(SLC25A22):c.617C>T (p.Pro206Leu) rs121918334 0.00003
NM_001191061.2(SLC25A22):c.654G>A (p.Ala218=) rs769899113 0.00003
NM_001191061.2(SLC25A22):c.708G>A (p.Gly236=) rs1246435430 0.00003
NM_001191061.2(SLC25A22):c.743-15G>A rs780768183 0.00003
NM_001191061.2(SLC25A22):c.85A>T (p.Ile29Phe) rs1386206620 0.00003
NM_001191061.2(SLC25A22):c.871C>T (p.Arg291Cys) rs762897089 0.00003
NM_001191061.2(SLC25A22):c.873C>T (p.Arg291=) rs1060502506 0.00003
NM_001191061.2(SLC25A22):c.903C>T (p.Ile301=) rs564026448 0.00003
NM_001191061.2(SLC25A22):c.909G>A (p.Gln303=) rs756957992 0.00003
NM_001191061.2(SLC25A22):c.922C>T (p.Leu308=) rs758596118 0.00003
NM_001191061.2(SLC25A22):c.933G>A (p.Ala311=) rs587781170 0.00003
NM_001191061.2(SLC25A22):c.*1041C>T rs886048690 0.00002
NM_001191061.2(SLC25A22):c.-163-934C>T rs866357313 0.00002
NM_001191061.2(SLC25A22):c.130C>T (p.Arg44Cys) rs576145791 0.00002
NM_001191061.2(SLC25A22):c.147-5C>T rs755769739 0.00002
NM_001191061.2(SLC25A22):c.279G>C (p.Gln93His) rs769730725 0.00002
NM_001191061.2(SLC25A22):c.294-10C>T rs751196462 0.00002
NM_001191061.2(SLC25A22):c.294-19G>A rs1323982646 0.00002
NM_001191061.2(SLC25A22):c.294-7A>C rs762588496 0.00002
NM_001191061.2(SLC25A22):c.452C>T (p.Ser151Leu) rs750386693 0.00002
NM_001191061.2(SLC25A22):c.453G>A (p.Ser151=) rs559239495 0.00002
NM_001191061.2(SLC25A22):c.494C>T (p.Ala165Val) rs752791901 0.00002
NM_001191061.2(SLC25A22):c.507G>A (p.Thr169=) rs540297776 0.00002
NM_001191061.2(SLC25A22):c.519G>T (p.Leu173=) rs761180722 0.00002
NM_001191061.2(SLC25A22):c.529C>T (p.Leu177=) rs757171068 0.00002
NM_001191061.2(SLC25A22):c.535C>T (p.Arg179Trp) rs574361397 0.00002
NM_001191061.2(SLC25A22):c.54C>T (p.Ala18=) rs950168213 0.00002
NM_001191061.2(SLC25A22):c.550G>A (p.Ala184Thr) rs370941893 0.00002
NM_001191061.2(SLC25A22):c.587+14G>A rs754046647 0.00002
NM_001191061.2(SLC25A22):c.646C>T (p.Arg216Cys) rs771544252 0.00002
NM_001191061.2(SLC25A22):c.657C>T (p.Ser219=) rs200830331 0.00002
NM_001191061.2(SLC25A22):c.681G>A (p.Val227=) rs376895051 0.00002
NM_001191061.2(SLC25A22):c.731A>G (p.Asn244Ser) rs778299128 0.00002
NM_001191061.2(SLC25A22):c.818+15C>T rs201177114 0.00002
NM_001191061.2(SLC25A22):c.845C>T (p.Ser282Leu) rs1168502556 0.00002
NM_001191061.2(SLC25A22):c.849C>T (p.Ala283=) rs1429166947 0.00002
NM_001191061.2(SLC25A22):c.*1000C>T rs1445247555 0.00001
NM_001191061.2(SLC25A22):c.*39C>T rs752899555 0.00001
NM_001191061.2(SLC25A22):c.*510A>G rs886048694 0.00001
NM_001191061.2(SLC25A22):c.*845T>A rs886048691 0.00001
NM_001191061.2(SLC25A22):c.*937G>A rs1344016618 0.00001
NM_001191061.2(SLC25A22):c.-163-15C>T rs886048703 0.00001
NM_001191061.2(SLC25A22):c.135G>C (p.Val45=) rs914938263 0.00001
NM_001191061.2(SLC25A22):c.141G>C (p.Thr47=) rs781681487 0.00001
NM_001191061.2(SLC25A22):c.146+20G>A rs533314464 0.00001
NM_001191061.2(SLC25A22):c.146+9G>A rs1205601942 0.00001
NM_001191061.2(SLC25A22):c.147-11C>T rs748509400 0.00001
NM_001191061.2(SLC25A22):c.147-12C>G rs1864692888 0.00001
NM_001191061.2(SLC25A22):c.165G>A (p.Lys55=) rs758155200 0.00001
NM_001191061.2(SLC25A22):c.16A>G (p.Ile6Val) rs1362967882 0.00001
NM_001191061.2(SLC25A22):c.172C>T (p.Arg58Cys) rs202242484 0.00001
NM_001191061.2(SLC25A22):c.173G>A (p.Arg58His) rs754048758 0.00001
NM_001191061.2(SLC25A22):c.178G>A (p.Glu60Lys) rs193920962 0.00001
NM_001191061.2(SLC25A22):c.179A>G (p.Glu60Gly) rs587784387 0.00001
NM_001191061.2(SLC25A22):c.199C>T (p.Arg67Trp) rs780763318 0.00001
NM_001191061.2(SLC25A22):c.20+19C>T rs1286759114 0.00001
NM_001191061.2(SLC25A22):c.203-15C>A rs371498993 0.00001
NM_001191061.2(SLC25A22):c.203-19C>T rs755909870 0.00001
NM_001191061.2(SLC25A22):c.21-11dup rs1252614436 0.00001
NM_001191061.2(SLC25A22):c.251T>G (p.Leu84Arg) rs772950759 0.00001
NM_001191061.2(SLC25A22):c.272G>A (p.Arg91Gln) rs199841087 0.00001
NM_001191061.2(SLC25A22):c.284C>G (p.Ser95Cys) rs369735050 0.00001
NM_001191061.2(SLC25A22):c.307C>G (p.Leu103Val) rs370392070 0.00001
NM_001191061.2(SLC25A22):c.313A>G (p.Lys105Glu) rs1373412474 0.00001
NM_001191061.2(SLC25A22):c.340G>A (p.Gly114Ser) rs905293556 0.00001
NM_001191061.2(SLC25A22):c.351G>A (p.Gln117=) rs377299330 0.00001
NM_001191061.2(SLC25A22):c.357C>T (p.Ile119=) rs748285057 0.00001
NM_001191061.2(SLC25A22):c.358G>A (p.Val120Met) rs774410865 0.00001
NM_001191061.2(SLC25A22):c.379C>T (p.Leu127=) rs746201051 0.00001
NM_001191061.2(SLC25A22):c.393G>A (p.Leu131=) rs1177053683 0.00001
NM_001191061.2(SLC25A22):c.412+8C>T rs760438511 0.00001
NM_001191061.2(SLC25A22):c.416C>G (p.Ala139Gly) rs974302832 0.00001
NM_001191061.2(SLC25A22):c.462G>T (p.Gly154=) rs955053926 0.00001
NM_001191061.2(SLC25A22):c.463G>T (p.Gly155Cys) rs886048696 0.00001
NM_001191061.2(SLC25A22):c.467C>A (p.Ala156Asp) rs1353048193 0.00001
NM_001191061.2(SLC25A22):c.521C>T (p.Thr174Ile) rs773623968 0.00001
NM_001191061.2(SLC25A22):c.578C>T (p.Thr193Met) rs770357560 0.00001
NM_001191061.2(SLC25A22):c.588-5C>A rs749545887 0.00001
NM_001191061.2(SLC25A22):c.591T>C (p.Asp197=) rs1006751984 0.00001
NM_001191061.2(SLC25A22):c.609G>A (p.Val203=) rs751993115 0.00001
NM_001191061.2(SLC25A22):c.63C>T (p.Ile21=) rs555824464 0.00001
NM_001191061.2(SLC25A22):c.652G>T (p.Ala218Ser) rs561163386 0.00001
NM_001191061.2(SLC25A22):c.661G>A (p.Glu221Lys) rs1441545632 0.00001
NM_001191061.2(SLC25A22):c.669G>A (p.Ser223=) rs1393878147 0.00001
NM_001191061.2(SLC25A22):c.67G>A (p.Val23Ile) rs1225734619 0.00001
NM_001191061.2(SLC25A22):c.714C>T (p.Ala238=) rs762903578 0.00001
NM_001191061.2(SLC25A22):c.725C>T (p.Ala242Val) rs781424186 0.00001
NM_001191061.2(SLC25A22):c.735_736del (p.Pro245_Cys246insTer) rs796053242 0.00001
NM_001191061.2(SLC25A22):c.752C>T (p.Thr251Met) rs1332876414 0.00001
NM_001191061.2(SLC25A22):c.753G>A (p.Thr251=) rs752605716 0.00001
NM_001191061.2(SLC25A22):c.770A>G (p.Gln257Arg) rs1384185673 0.00001
NM_001191061.2(SLC25A22):c.792C>T (p.Thr264=) rs772170781 0.00001
NM_001191061.2(SLC25A22):c.797C>T (p.Ser266Phe) rs939554287 0.00001
NM_001191061.2(SLC25A22):c.818+18C>T rs1259282620 0.00001
NM_001191061.2(SLC25A22):c.818+20G>C rs574960850 0.00001
NM_001191061.2(SLC25A22):c.819-3C>T rs141931491 0.00001
NM_001191061.2(SLC25A22):c.819-6C>T rs1311947754 0.00001
NM_001191061.2(SLC25A22):c.829C>T (p.Arg277Trp) rs567628237 0.00001
NM_001191061.2(SLC25A22):c.846G>A (p.Ser282=) rs753804802 0.00001
NM_001191061.2(SLC25A22):c.853C>T (p.Leu285=) rs759256797 0.00001
NM_001191061.2(SLC25A22):c.861C>T (p.Gly287=) rs202218399 0.00001
NM_001191061.2(SLC25A22):c.874G>A (p.Ala292Thr) rs369729483 0.00001
NM_001191061.2(SLC25A22):c.875C>T (p.Ala292Val) rs183409730 0.00001
NM_001191061.2(SLC25A22):c.87C>T (p.Ile29=) rs138185663 0.00001
NM_001191061.2(SLC25A22):c.898G>A (p.Gly300Ser) rs969554802 0.00001
NM_001191061.2(SLC25A22):c.932C>T (p.Ala311Val) rs760123308 0.00001
NM_001191061.2(SLC25A22):c.945G>A (p.Leu315=) rs1179494187 0.00001
NM_001191061.2(SLC25A22):c.967G>A (p.Ala323Thr) rs774103118 0.00001
NC_000011.10:g.(?_791895)_(795026_?)del
NM_001191061.2(SLC25A22):c.*1013C>A rs542204237
NM_001191061.2(SLC25A22):c.*1292T>C rs1864462584
NM_001191061.2(SLC25A22):c.*221C>G rs551904948
NM_001191061.2(SLC25A22):c.*34A>G rs74994790
NM_001191061.2(SLC25A22):c.*746G>C rs576938612
NM_001191061.2(SLC25A22):c.*778G>A rs971863478
NM_001191061.2(SLC25A22):c.*810C>T rs886048692
NM_001191061.2(SLC25A22):c.-115C>T rs1864736207
NM_001191061.2(SLC25A22):c.-163-1026C>T rs868730118
NM_001191061.2(SLC25A22):c.-163-945G>C rs1864814802
NM_001191061.2(SLC25A22):c.-94C>G rs934844019
NM_001191061.2(SLC25A22):c.105G>A (p.Arg35=) rs1292194098
NM_001191061.2(SLC25A22):c.111G>A (p.Gln37=)
NM_001191061.2(SLC25A22):c.114C>T (p.Asn38=) rs1565039954
NM_001191061.2(SLC25A22):c.116A>G (p.Gln39Arg) rs1354157440
NM_001191061.2(SLC25A22):c.117G>A (p.Gln39=)
NM_001191061.2(SLC25A22):c.124G>T (p.Gly42Cys) rs535927522
NM_001191061.2(SLC25A22):c.129G>A (p.Gln43=) rs2133713161
NM_001191061.2(SLC25A22):c.12G>A (p.Lys4=)
NM_001191061.2(SLC25A22):c.131G>A (p.Arg44His)
NM_001191061.2(SLC25A22):c.131G>T (p.Arg44Leu) rs774588138
NM_001191061.2(SLC25A22):c.133G>T (p.Val45Leu)
NM_001191061.2(SLC25A22):c.139A>G (p.Thr47Ala) rs2133712970
NM_001191061.2(SLC25A22):c.140C>A (p.Thr47Lys) rs142220309
NM_001191061.2(SLC25A22):c.140C>G (p.Thr47Arg)
NM_001191061.2(SLC25A22):c.141G>A (p.Thr47=) rs781681487
NM_001191061.2(SLC25A22):c.146+10C>T
NM_001191061.2(SLC25A22):c.146+15C>T
NM_001191061.2(SLC25A22):c.146+16G>A
NM_001191061.2(SLC25A22):c.146+19C>T
NM_001191061.2(SLC25A22):c.146+20G>T rs533314464
NM_001191061.2(SLC25A22):c.147-18C>G
NM_001191061.2(SLC25A22):c.147-18_147-17del rs2133711440
NM_001191061.2(SLC25A22):c.147-20C>A
NM_001191061.2(SLC25A22):c.147-20C>T
NM_001191061.2(SLC25A22):c.147-3C>T
NM_001191061.2(SLC25A22):c.147-7del
NM_001191061.2(SLC25A22):c.149C>A (p.Ser50Tyr) rs1311121982
NM_001191061.2(SLC25A22):c.154T>G (p.Cys52Gly) rs2133711227
NM_001191061.2(SLC25A22):c.159C>T (p.Leu53=)
NM_001191061.2(SLC25A22):c.168C>T (p.Thr56=)
NM_001191061.2(SLC25A22):c.169G>C (p.Val57Leu)
NM_001191061.2(SLC25A22):c.189C>T (p.Phe63=)
NM_001191061.2(SLC25A22):c.191G>T (p.Gly64Val)
NM_001191061.2(SLC25A22):c.197A>G (p.Tyr66Cys) rs2133710794
NM_001191061.2(SLC25A22):c.198C>T (p.Tyr66=)
NM_001191061.2(SLC25A22):c.20+12G>A
NM_001191061.2(SLC25A22):c.20+14C>T
NM_001191061.2(SLC25A22):c.20+16T>C
NM_001191061.2(SLC25A22):c.20+17G>A
NM_001191061.2(SLC25A22):c.20+18dup rs796053236
NM_001191061.2(SLC25A22):c.20+5G>A rs1864728028
NM_001191061.2(SLC25A22):c.20+5G>C
NM_001191061.2(SLC25A22):c.20+7C>A rs376421164
NM_001191061.2(SLC25A22):c.200G>T (p.Arg67Leu)
NM_001191061.2(SLC25A22):c.202+12C>T rs1005641775
NM_001191061.2(SLC25A22):c.202+15G>A
NM_001191061.2(SLC25A22):c.202+16G>A
NM_001191061.2(SLC25A22):c.202+18T>C
NM_001191061.2(SLC25A22):c.202+19G>A
NM_001191061.2(SLC25A22):c.202+1G>A rs1287249801
NM_001191061.2(SLC25A22):c.202+9T>C rs2133710655
NM_001191061.2(SLC25A22):c.203-11del
NM_001191061.2(SLC25A22):c.203-12C>T rs1432924818
NM_001191061.2(SLC25A22):c.203-14C>T
NM_001191061.2(SLC25A22):c.203-19C>A
NM_001191061.2(SLC25A22):c.203-7C>T
NM_001191061.2(SLC25A22):c.203-9G>A
NM_001191061.2(SLC25A22):c.21-11del
NM_001191061.2(SLC25A22):c.21-3C>T rs794727518
NM_001191061.2(SLC25A22):c.21-6A>G
NM_001191061.2(SLC25A22):c.210T>G (p.Ala70=) rs1864648097
NM_001191061.2(SLC25A22):c.221C>T (p.Thr74Ile)
NM_001191061.2(SLC25A22):c.225C>T (p.Leu75=) rs1394231259
NM_001191061.2(SLC25A22):c.22C>T (p.Leu8=) rs2133714057
NM_001191061.2(SLC25A22):c.231C>T (p.Thr77=) rs1466168732
NM_001191061.2(SLC25A22):c.234C>G (p.Pro78=)
NM_001191061.2(SLC25A22):c.235G>A (p.Glu79Lys) rs1215087087
NM_001191061.2(SLC25A22):c.254C>A (p.Ala85Glu) rs1060502507
NM_001191061.2(SLC25A22):c.258C>G (p.Ala86=)
NM_001191061.2(SLC25A22):c.258C>T (p.Ala86=)
NM_001191061.2(SLC25A22):c.263A>G (p.Asp88Gly) rs2133706338
NM_001191061.2(SLC25A22):c.271C>T (p.Arg91Ter) rs936639741
NM_001191061.2(SLC25A22):c.274C>T (p.His92Tyr) rs2133706277
NM_001191061.2(SLC25A22):c.289G>A (p.Asp97Asn) rs2133706158
NM_001191061.2(SLC25A22):c.291C>T (p.Asp97=)
NM_001191061.2(SLC25A22):c.293+12G>C
NM_001191061.2(SLC25A22):c.293+14C>G rs1864642338
NM_001191061.2(SLC25A22):c.293+19A>G
NM_001191061.2(SLC25A22):c.293+3G>A rs771032620
NM_001191061.2(SLC25A22):c.294-10C>G
NM_001191061.2(SLC25A22):c.294-11C>T rs756446956
NM_001191061.2(SLC25A22):c.294-3C>A
NM_001191061.2(SLC25A22):c.294-7A>T rs762588496
NM_001191061.2(SLC25A22):c.294-9C>T rs201831836
NM_001191061.2(SLC25A22):c.29C>T (p.Ala10Val)
NM_001191061.2(SLC25A22):c.310C>T (p.Leu104Phe) rs2133703943
NM_001191061.2(SLC25A22):c.318G>A (p.Glu106=) rs1461046318
NM_001191061.2(SLC25A22):c.319A>G (p.Met107Val) rs1032909804
NM_001191061.2(SLC25A22):c.321G>C (p.Met107Ile)
NM_001191061.2(SLC25A22):c.326C>A (p.Ala109Glu) rs1565037173
NM_001191061.2(SLC25A22):c.327G>C (p.Ala109=) rs141975755
NM_001191061.2(SLC25A22):c.328G>C (p.Gly110Arg) rs587777243
NM_001191061.2(SLC25A22):c.342C>T (p.Gly114=) rs1590119517
NM_001191061.2(SLC25A22):c.344C>T (p.Thr115Ile) rs1565037117
NM_001191061.2(SLC25A22):c.365C>T (p.Thr122Met) rs778373047
NM_001191061.2(SLC25A22):c.366G>A (p.Thr122=)
NM_001191061.2(SLC25A22):c.369C>T (p.Pro123=) rs1323870979
NM_001191061.2(SLC25A22):c.36C>A (p.Leu12=) rs1172103007
NM_001191061.2(SLC25A22):c.36C>T (p.Leu12=) rs1172103007
NM_001191061.2(SLC25A22):c.371T>C (p.Met124Thr)
NM_001191061.2(SLC25A22):c.378G>A (p.Met126Ile) rs756469889
NM_001191061.2(SLC25A22):c.385A>G (p.Ile129Val)
NM_001191061.2(SLC25A22):c.387C>T (p.Ile129=)
NM_001191061.2(SLC25A22):c.392T>C (p.Leu131Pro) rs1864613507
NM_001191061.2(SLC25A22):c.394C>T (p.Gln132Ter) rs1554965669
NM_001191061.2(SLC25A22):c.401C>T (p.Ala134Val) rs886048697
NM_001191061.2(SLC25A22):c.406C>T (p.Arg136Cys) rs758107712
NM_001191061.2(SLC25A22):c.407G>A (p.Arg136His)
NM_001191061.2(SLC25A22):c.407G>T (p.Arg136Leu) rs1248128712
NM_001191061.2(SLC25A22):c.409A>G (p.Ile137Val) rs1484690169
NM_001191061.2(SLC25A22):c.40A>G (p.Asn14Asp)
NM_001191061.2(SLC25A22):c.412+10G>A rs113091974
NM_001191061.2(SLC25A22):c.412+13G>A
NM_001191061.2(SLC25A22):c.412+16G>T
NM_001191061.2(SLC25A22):c.412+17G>A rs929871203
NM_001191061.2(SLC25A22):c.412+3G>C rs1565036894
NM_001191061.2(SLC25A22):c.412+5G>A
NM_001191061.2(SLC25A22):c.412+7G>A
NM_001191061.2(SLC25A22):c.412+8C>G rs760438511
NM_001191061.2(SLC25A22):c.412+9G>C rs369276282
NM_001191061.2(SLC25A22):c.413-6C>T
NM_001191061.2(SLC25A22):c.413-7T>C rs969941249
NM_001191061.2(SLC25A22):c.415G>T (p.Ala139Ser) rs544386351
NM_001191061.2(SLC25A22):c.418C>T (p.Gln140Ter) rs797045969
NM_001191061.2(SLC25A22):c.420del (p.Arg141fs) rs2133702082
NM_001191061.2(SLC25A22):c.425A>G (p.Lys142Arg) rs2133701999
NM_001191061.2(SLC25A22):c.430C>G (p.Leu144Val)
NM_001191061.2(SLC25A22):c.439C>T (p.Gln147Ter)
NM_001191061.2(SLC25A22):c.444C>T (p.Gly148=)
NM_001191061.2(SLC25A22):c.452C>A (p.Ser151Ter)
NM_001191061.2(SLC25A22):c.456C>T (p.Ala152=)
NM_001191061.2(SLC25A22):c.462G>C (p.Gly154=)
NM_001191061.2(SLC25A22):c.477A>G (p.Ser159=) rs2133701556
NM_001191061.2(SLC25A22):c.479T>C (p.Val160Ala)
NM_001191061.2(SLC25A22):c.482A>G (p.Glu161Gly)
NM_001191061.2(SLC25A22):c.483G>C (p.Glu161Asp) rs2133701499
NM_001191061.2(SLC25A22):c.496C>T (p.Pro166Ser) rs11549717
NM_001191061.2(SLC25A22):c.497C>G (p.Pro166Arg) rs1377963380
NM_001191061.2(SLC25A22):c.4del (p.Ala2fs)
NM_001191061.2(SLC25A22):c.501G>A (p.Arg167=)
NM_001191061.2(SLC25A22):c.504C>G (p.Pro168=)
NM_001191061.2(SLC25A22):c.506C>A (p.Thr169Lys) rs533726078
NM_001191061.2(SLC25A22):c.513C>T (p.Thr171=)
NM_001191061.2(SLC25A22):c.517C>T (p.Leu173=) rs1306034932
NM_001191061.2(SLC25A22):c.523C>T (p.Arg175Cys)
NM_001191061.2(SLC25A22):c.524G>A (p.Arg175His) rs769329043
NM_001191061.2(SLC25A22):c.524G>T (p.Arg175Leu) rs769329043
NM_001191061.2(SLC25A22):c.52G>A (p.Ala18Thr)
NM_001191061.2(SLC25A22):c.531G>C (p.Leu177=)
NM_001191061.2(SLC25A22):c.532C>T (p.Leu178=) rs1394480717
NM_001191061.2(SLC25A22):c.53C>T (p.Ala18Val) rs886048698
NM_001191061.2(SLC25A22):c.541C>G (p.Arg181Gly) rs374216522
NM_001191061.2(SLC25A22):c.546C>T (p.Gly182=) rs1590118467
NM_001191061.2(SLC25A22):c.551C>T (p.Ala184Val)
NM_001191061.2(SLC25A22):c.552C>A (p.Ala184=) rs368807589
NM_001191061.2(SLC25A22):c.552C>T (p.Ala184=)
NM_001191061.2(SLC25A22):c.556C>T (p.Leu186Phe) rs1363497671
NM_001191061.2(SLC25A22):c.558C>T (p.Leu186=) rs2133700836
NM_001191061.2(SLC25A22):c.568_587+6del rs2133700632
NM_001191061.2(SLC25A22):c.570C>G (p.Leu190=) rs145322467
NM_001191061.2(SLC25A22):c.578C>A (p.Thr193Lys) rs770357560
NM_001191061.2(SLC25A22):c.581T>G (p.Leu194Arg)
NM_001191061.2(SLC25A22):c.587+11_587+17del rs760895473
NM_001191061.2(SLC25A22):c.587+16C>T
NM_001191061.2(SLC25A22):c.587+19G>A rs1057520368
NM_001191061.2(SLC25A22):c.587+5G>A rs779326525
NM_001191061.2(SLC25A22):c.588-16_588-14del
NM_001191061.2(SLC25A22):c.627C>T (p.Ala209=) rs2133699836
NM_001191061.2(SLC25A22):c.658G>A (p.Glu220Lys)
NM_001191061.2(SLC25A22):c.658G>T (p.Glu220Ter)
NM_001191061.2(SLC25A22):c.658GAG[1] (p.Glu221del) rs1307254132
NM_001191061.2(SLC25A22):c.666G>A (p.Lys222=) rs886048695
NM_001191061.2(SLC25A22):c.674T>G (p.Phe225Cys)
NM_001191061.2(SLC25A22):c.681G>C (p.Val227=) rs376895051
NM_001191061.2(SLC25A22):c.687C>T (p.Phe229=)
NM_001191061.2(SLC25A22):c.698G>C (p.Cys233Ser)
NM_001191061.2(SLC25A22):c.706G>T (p.Gly236Trp) rs121918335
NM_001191061.2(SLC25A22):c.714C>G (p.Ala238=)
NM_001191061.2(SLC25A22):c.730_735dup (p.Asn244_Pro245dup) rs2133699233
NM_001191061.2(SLC25A22):c.732C>T (p.Asn244=)
NM_001191061.2(SLC25A22):c.733C>T (p.Pro245Ser)
NM_001191061.2(SLC25A22):c.734C>G (p.Pro245Arg)
NM_001191061.2(SLC25A22):c.737G>A (p.Cys246Tyr)
NM_001191061.2(SLC25A22):c.742+10T>C
NM_001191061.2(SLC25A22):c.742+10T>G
NM_001191061.2(SLC25A22):c.742+16G>A rs1480885232
NM_001191061.2(SLC25A22):c.742+19G>A rs373084007
NM_001191061.2(SLC25A22):c.742+20C>G
NM_001191061.2(SLC25A22):c.742+7G>A
NM_001191061.2(SLC25A22):c.743-11G>A
NM_001191061.2(SLC25A22):c.743-11G>T
NM_001191061.2(SLC25A22):c.743-16C>G
NM_001191061.2(SLC25A22):c.743-17C>G
NM_001191061.2(SLC25A22):c.743-19A>G
NM_001191061.2(SLC25A22):c.743-2A>C
NM_001191061.2(SLC25A22):c.743-8C>T
NM_001191061.2(SLC25A22):c.747G>A (p.Val249=)
NM_001191061.2(SLC25A22):c.754C>T (p.Arg252Trp) rs1388811021
NM_001191061.2(SLC25A22):c.757C>G (p.Leu253Val) rs1565035315
NM_001191061.2(SLC25A22):c.757C>T (p.Leu253Phe) rs1565035315
NM_001191061.2(SLC25A22):c.760C>T (p.Gln254Ter)
NM_001191061.2(SLC25A22):c.762G>A (p.Gln254=)
NM_001191061.2(SLC25A22):c.76G>A (p.Val26Met) rs759144900
NM_001191061.2(SLC25A22):c.779_783dup (p.Glu262fs) rs2133698597
NM_001191061.2(SLC25A22):c.782A>G (p.Asn261Ser)
NM_001191061.2(SLC25A22):c.784G>A (p.Glu262Lys)
NM_001191061.2(SLC25A22):c.786G>A (p.Glu262=) rs1365291767
NM_001191061.2(SLC25A22):c.788A>C (p.Asp263Ala) rs1565035226
NM_001191061.2(SLC25A22):c.798T>C (p.Ser266=)
NM_001191061.2(SLC25A22):c.808G>C (p.Asp270His) rs1864556372
NM_001191061.2(SLC25A22):c.810C>T (p.Asp270=)
NM_001191061.2(SLC25A22):c.813_814del (p.Ala272fs) rs1565035177
NM_001191061.2(SLC25A22):c.818+16G>A
NM_001191061.2(SLC25A22):c.818+17G>C
NM_001191061.2(SLC25A22):c.818+19G>A
NM_001191061.2(SLC25A22):c.818+3G>A rs1590117588
NM_001191061.2(SLC25A22):c.818+9del
NM_001191061.2(SLC25A22):c.818G>A (p.Arg273Lys) rs1195505218
NM_001191061.2(SLC25A22):c.819-7_819-5del
NM_001191061.2(SLC25A22):c.819-8C>A
NM_001191061.2(SLC25A22):c.819-9C>G
NM_001191061.2(SLC25A22):c.829C>A (p.Arg277=) rs567628237
NM_001191061.2(SLC25A22):c.836A>G (p.Glu279Gly) rs2133697920
NM_001191061.2(SLC25A22):c.83C>T (p.Pro28Leu) rs1306343660
NM_001191061.2(SLC25A22):c.862G>A (p.Ala288Thr)
NM_001191061.2(SLC25A22):c.864C>T (p.Ala288=) rs551917192
NM_001191061.2(SLC25A22):c.869G>A (p.Cys290Tyr) rs2133697677
NM_001191061.2(SLC25A22):c.872G>A (p.Arg291His)
NM_001191061.2(SLC25A22):c.880G>C (p.Val294Leu) rs1864546889
NM_001191061.2(SLC25A22):c.882C>T (p.Val294=) rs1445740400
NM_001191061.2(SLC25A22):c.883A>G (p.Ile295Val) rs1554965292
NM_001191061.2(SLC25A22):c.887C>T (p.Ala296Val) rs1565034826
NM_001191061.2(SLC25A22):c.88G>A (p.Asp30Asn) rs766399962
NM_001191061.2(SLC25A22):c.891C>A (p.Pro297=)
NM_001191061.2(SLC25A22):c.891C>G (p.Pro297=)
NM_001191061.2(SLC25A22):c.899G>T (p.Gly300Val)
NM_001191061.2(SLC25A22):c.8_12del (p.Asp3fs)
NM_001191061.2(SLC25A22):c.900C>T (p.Gly300=) rs1057522422
NM_001191061.2(SLC25A22):c.926G>A (p.Gly309Asp)
NM_001191061.2(SLC25A22):c.927C>T (p.Gly309=)
NM_001191061.2(SLC25A22):c.929T>C (p.Ile310Thr) rs2133697146
NM_001191061.2(SLC25A22):c.936G>A (p.Glu312=)
NM_001191061.2(SLC25A22):c.939C>T (p.Ser313=)
NM_001191061.2(SLC25A22):c.940C>T (p.Leu314=) rs1405191766
NM_001191061.2(SLC25A22):c.948G>T (p.Gly316=) rs1554965239
NM_001191061.2(SLC25A22):c.94G>C (p.Ala32Pro)
NM_001191061.2(SLC25A22):c.955C>T (p.Gln319Ter)
NM_001191061.2(SLC25A22):c.955del (p.Gln319fs) rs1864541864
NM_001191061.2(SLC25A22):c.959A>G (p.Asp320Gly) rs1864541527
NM_001191061.2(SLC25A22):c.965A>G (p.Gln322Arg) rs1357296463
NM_001191061.2(SLC25A22):c.99G>A (p.Lys33=)

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