ClinVar Miner

List of variants in gene SLC25A22 reported as likely benign for epilepsy

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 232
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HGVS dbSNP gnomAD frequency
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.132C>T (p.Arg44=) rs146402942 0.00096
NM_001191061.2(SLC25A22):c.140C>T (p.Thr47Met) rs142220309 0.00068
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.51C>T (p.Ile17=) rs566076909 0.00025
NM_001191061.2(SLC25A22):c.678C>T (p.Tyr226=) rs200072903 0.00015
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.147-10T>G rs779613015 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.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.123C>T (p.Asn41=) rs544915540 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.294-20C>T rs755464940 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.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.783C>T (p.Asn261=) rs760890948 0.00005
NM_001191061.2(SLC25A22):c.819-16C>T rs572751087 0.00005
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.636C>T (p.Asn212=) rs760280356 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.15G>A (p.Gln5=) rs370880055 0.00003
NM_001191061.2(SLC25A22):c.20+7C>T rs376421164 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.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.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.147-5C>T rs755769739 0.00002
NM_001191061.2(SLC25A22):c.294-10C>T rs751196462 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.519G>T (p.Leu173=) rs761180722 0.00002
NM_001191061.2(SLC25A22):c.529C>T (p.Leu177=) rs757171068 0.00002
NM_001191061.2(SLC25A22):c.54C>T (p.Ala18=) rs950168213 0.00002
NM_001191061.2(SLC25A22):c.587+14G>A rs754046647 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.818+15C>T rs201177114 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.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.351G>A (p.Gln117=) rs377299330 0.00001
NM_001191061.2(SLC25A22):c.357C>T (p.Ile119=) rs748285057 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.462G>T (p.Gly154=) rs955053926 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.669G>A (p.Ser223=) rs1393878147 0.00001
NM_001191061.2(SLC25A22):c.714C>T (p.Ala238=) rs762903578 0.00001
NM_001191061.2(SLC25A22):c.753G>A (p.Thr251=) rs752605716 0.00001
NM_001191061.2(SLC25A22):c.792C>T (p.Thr264=) rs772170781 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.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.87C>T (p.Ile29=) rs138185663 0.00001
NM_001191061.2(SLC25A22):c.945G>A (p.Leu315=) rs1179494187 0.00001
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.117G>A (p.Gln39=)
NM_001191061.2(SLC25A22):c.129G>A (p.Gln43=) rs2133713161
NM_001191061.2(SLC25A22):c.12G>A (p.Lys4=)
NM_001191061.2(SLC25A22):c.133G>T (p.Val45Leu)
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.159C>T (p.Leu53=)
NM_001191061.2(SLC25A22):c.168C>T (p.Thr56=)
NM_001191061.2(SLC25A22):c.189C>T (p.Phe63=)
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+7C>A rs376421164
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+9T>C rs2133710655
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.21-6A>G
NM_001191061.2(SLC25A22):c.210T>G (p.Ala70=) rs1864648097
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.258C>G (p.Ala86=)
NM_001191061.2(SLC25A22):c.258C>T (p.Ala86=)
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.294-10C>G
NM_001191061.2(SLC25A22):c.294-11C>T rs756446956
NM_001191061.2(SLC25A22):c.294-7A>T rs762588496
NM_001191061.2(SLC25A22):c.294-9C>T rs201831836
NM_001191061.2(SLC25A22):c.318G>A (p.Glu106=) rs1461046318
NM_001191061.2(SLC25A22):c.327G>C (p.Ala109=) rs141975755
NM_001191061.2(SLC25A22):c.342C>T (p.Gly114=) rs1590119517
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.387C>T (p.Ile129=)
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+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.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.501G>A (p.Arg167=)
NM_001191061.2(SLC25A22):c.504C>G (p.Pro168=)
NM_001191061.2(SLC25A22):c.513C>T (p.Thr171=)
NM_001191061.2(SLC25A22):c.517C>T (p.Leu173=) rs1306034932
NM_001191061.2(SLC25A22):c.531G>C (p.Leu177=)
NM_001191061.2(SLC25A22):c.532C>T (p.Leu178=) rs1394480717
NM_001191061.2(SLC25A22):c.552C>A (p.Ala184=) rs368807589
NM_001191061.2(SLC25A22):c.552C>T (p.Ala184=)
NM_001191061.2(SLC25A22):c.558C>T (p.Leu186=) rs2133700836
NM_001191061.2(SLC25A22):c.570C>G (p.Leu190=) rs145322467
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.588-16_588-14del
NM_001191061.2(SLC25A22):c.627C>T (p.Ala209=) rs2133699836
NM_001191061.2(SLC25A22):c.681G>C (p.Val227=) rs376895051
NM_001191061.2(SLC25A22):c.687C>T (p.Phe229=)
NM_001191061.2(SLC25A22):c.714C>G (p.Ala238=)
NM_001191061.2(SLC25A22):c.732C>T (p.Asn244=)
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+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.743-8C>T
NM_001191061.2(SLC25A22):c.747G>A (p.Val249=)
NM_001191061.2(SLC25A22):c.762G>A (p.Gln254=)
NM_001191061.2(SLC25A22):c.786G>A (p.Glu262=) rs1365291767
NM_001191061.2(SLC25A22):c.798T>C (p.Ser266=)
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+9del
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.864C>T (p.Ala288=) rs551917192
NM_001191061.2(SLC25A22):c.882C>T (p.Val294=) rs1445740400
NM_001191061.2(SLC25A22):c.891C>A (p.Pro297=)
NM_001191061.2(SLC25A22):c.891C>G (p.Pro297=)
NM_001191061.2(SLC25A22):c.900C>T (p.Gly300=) rs1057522422
NM_001191061.2(SLC25A22):c.927C>T (p.Gly309=)
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.99G>A (p.Lys33=)

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