ClinVar Miner

List of variants in gene SLC25A22 studied for complex neurodevelopmental disorder

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 405
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001191061.2(SLC25A22):c.234C>T (p.Pro78=) rs80335370 0.09454
NM_001191061.2(SLC25A22):c.448C>G (p.Leu150Val) rs111277421 0.06224
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.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.570C>T (p.Leu190=) rs145322467 0.00137
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.140C>T (p.Thr47Met) rs142220309 0.00068
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.743-12C>T rs200517971 0.00041
NM_001191061.2(SLC25A22):c.413-8G>C rs376015598 0.00032
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.464G>C (p.Gly155Ala) rs200992080 0.00016
NM_001191061.2(SLC25A22):c.678C>T (p.Tyr226=) rs200072903 0.00015
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.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.414C>T (p.Ala138=) rs199887745 0.00010
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.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.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.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.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.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.452C>T (p.Ser151Leu) rs750386693 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.725C>T (p.Ala242Val) rs781424186 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.932C>T (p.Ala311Val) rs760123308 0.00003
NM_001191061.2(SLC25A22):c.933G>A (p.Ala311=) rs587781170 0.00003
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.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.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.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.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.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.819-6C>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.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.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.147-18_147-17del rs2133711440
NM_001191061.2(SLC25A22):c.147-20C>A
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.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+14C>T
NM_001191061.2(SLC25A22):c.20+18dup rs796053236
NM_001191061.2(SLC25A22):c.20+5G>A rs1864728028
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.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+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.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.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.532C>T (p.Leu178=) rs1394480717
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+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.674T>G (p.Phe225Cys)
NM_001191061.2(SLC25A22):c.687C>T (p.Phe229=)
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.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.743-19A>G
NM_001191061.2(SLC25A22):c.743-8C>T
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.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.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.819-7_819-5del
NM_001191061.2(SLC25A22):c.819-8C>A
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.965A>G (p.Gln322Arg) rs1357296463
NM_001191061.2(SLC25A22):c.99G>A (p.Lys33=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.