ClinVar Miner

List of variants in gene SLC25A12 studied for not provided

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 487
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HGVS dbSNP gnomAD frequency
NM_003705.5(SLC25A12):c.99T>C (p.Tyr33=) rs1878583 0.81051
NM_003705.5(SLC25A12):c.210-21A>G rs2056202 0.76440
NM_003705.5(SLC25A12):c.466-3C>T rs3765166 0.20509
NM_003705.5(SLC25A12):c.1418G>A (p.Arg473Gln) rs35565687 0.03207
NM_003705.5(SLC25A12):c.728G>A (p.Arg243Lys) rs35881803 0.01111
NM_003705.5(SLC25A12):c.1458G>A (p.Ala486=) rs142179562 0.00399
NM_003705.5(SLC25A12):c.1794T>C (p.Tyr598=) rs142891505 0.00175
NM_003705.5(SLC25A12):c.1446+19T>C rs376661889 0.00099
NM_003705.5(SLC25A12):c.325+11A>T rs370624091 0.00068
NM_003705.5(SLC25A12):c.2015del (p.Ala672fs) rs780650245 0.00058
NM_003705.5(SLC25A12):c.1654G>A (p.Ala552Thr) rs142912356 0.00049
NM_003705.5(SLC25A12):c.1756C>A (p.Arg586=) rs370973358 0.00038
NM_003705.5(SLC25A12):c.751+20A>G rs150832118 0.00029
NM_003705.5(SLC25A12):c.1314C>A (p.Gly438=) rs372932097 0.00024
NM_003705.5(SLC25A12):c.779A>G (p.Tyr260Cys) rs146868573 0.00024
NM_003705.5(SLC25A12):c.967A>T (p.Ile323Phe) rs550152089 0.00018
NM_003705.5(SLC25A12):c.1402G>A (p.Ala468Thr) rs143128415 0.00015
NM_003705.5(SLC25A12):c.1171+17C>G rs370591049 0.00014
NM_003705.5(SLC25A12):c.12+7C>G rs372252947 0.00014
NM_003705.5(SLC25A12):c.210-20C>T rs367820735 0.00014
NM_003705.5(SLC25A12):c.930+3dup rs746487507 0.00014
NM_003705.5(SLC25A12):c.1665G>A (p.Thr555=) rs145746525 0.00013
NM_003705.5(SLC25A12):c.469C>T (p.Leu157=) rs138459110 0.00009
NM_003705.5(SLC25A12):c.1716G>T (p.Gly572=) rs530436359 0.00007
NM_003705.5(SLC25A12):c.1176G>A (p.Leu392=) rs921421150 0.00006
NM_003705.5(SLC25A12):c.1538A>G (p.Asn513Ser) rs374768423 0.00006
NM_003705.5(SLC25A12):c.355A>G (p.Ile119Val) rs374154447 0.00006
NM_003705.5(SLC25A12):c.697C>T (p.Arg233Cys) rs573694738 0.00006
NM_003705.5(SLC25A12):c.1323C>A (p.Val441=) rs201551228 0.00005
NM_003705.5(SLC25A12):c.1638G>C (p.Leu546=) rs753205346 0.00005
NM_003705.5(SLC25A12):c.813A>G (p.Leu271=) rs140105798 0.00005
NM_003705.5(SLC25A12):c.94C>T (p.Arg32Cys) rs749402282 0.00005
NM_003705.5(SLC25A12):c.957C>A (p.Ile319=) rs372453718 0.00005
NM_003705.5(SLC25A12):c.1013-13G>T rs776732601 0.00004
NM_003705.5(SLC25A12):c.1401C>T (p.Ser467=) rs150077172 0.00004
NM_003705.5(SLC25A12):c.1429A>G (p.Ile477Val) rs369912240 0.00004
NM_003705.5(SLC25A12):c.1706G>A (p.Arg569Gln) rs773781970 0.00004
NM_003705.5(SLC25A12):c.2033A>T (p.Gln678Leu) rs768492510 0.00004
NM_003705.5(SLC25A12):c.466-13A>G rs370022928 0.00004
NM_003705.5(SLC25A12):c.525C>T (p.Gly175=) rs759201054 0.00004
NM_003705.5(SLC25A12):c.540G>A (p.Leu180=) rs771375193 0.00004
NM_003705.5(SLC25A12):c.567T>C (p.Ile189=) rs527951238 0.00004
NM_003705.5(SLC25A12):c.66+8G>A rs757472464 0.00004
NM_003705.5(SLC25A12):c.905A>G (p.Tyr302Cys) rs375126289 0.00004
NM_003705.5(SLC25A12):c.95G>A (p.Arg32His) rs199596322 0.00004
NM_003705.5(SLC25A12):c.995T>G (p.Leu332Arg) rs200754828 0.00004
NM_003705.5(SLC25A12):c.1142G>A (p.Arg381His) rs368062271 0.00003
NM_003705.5(SLC25A12):c.1385C>T (p.Thr462Met) rs138477378 0.00003
NM_003705.5(SLC25A12):c.1386G>A (p.Thr462=) rs777556606 0.00003
NM_003705.5(SLC25A12):c.1616C>T (p.Ala539Val) rs778051864 0.00003
NM_003705.5(SLC25A12):c.1653C>T (p.Arg551=) rs767946235 0.00003
NM_003705.5(SLC25A12):c.169G>A (p.Val57Met) rs555001126 0.00003
NM_003705.5(SLC25A12):c.1843G>A (p.Ala615Thr) rs369666236 0.00003
NM_003705.5(SLC25A12):c.1974G>A (p.Pro658=) rs751410102 0.00003
NM_003705.5(SLC25A12):c.41A>G (p.His14Arg) rs371796365 0.00003
NM_003705.5(SLC25A12):c.752-14T>C rs747078612 0.00003
NM_003705.5(SLC25A12):c.910C>G (p.Leu304Val) rs372449488 0.00003
NM_003705.5(SLC25A12):c.931-17C>T rs778420782 0.00003
NM_003705.5(SLC25A12):c.998G>C (p.Gly333Ala) rs745760344 0.00003
NM_003705.5(SLC25A12):c.1039A>G (p.Ile347Val) rs927266622 0.00002
NM_003705.5(SLC25A12):c.1172-11C>G rs1205127054 0.00002
NM_003705.5(SLC25A12):c.1190T>C (p.Ile397Thr) rs199764487 0.00002
NM_003705.5(SLC25A12):c.1305+11C>T rs377429373 0.00002
NM_003705.5(SLC25A12):c.1305+19C>T rs553164976 0.00002
NM_003705.5(SLC25A12):c.1305+20G>A rs781367536 0.00002
NM_003705.5(SLC25A12):c.144T>C (p.Asn48=) rs774845835 0.00002
NM_003705.5(SLC25A12):c.1546G>A (p.Val516Met) rs779551152 0.00002
NM_003705.5(SLC25A12):c.1745-4T>C rs765417421 0.00002
NM_003705.5(SLC25A12):c.1893C>T (p.Ala631=) rs898014866 0.00002
NM_003705.5(SLC25A12):c.1909G>A (p.Gly637Ser) rs772668725 0.00002
NM_003705.5(SLC25A12):c.1934C>T (p.Thr645Met) rs747419483 0.00002
NM_003705.5(SLC25A12):c.33G>C (p.Gly11=) rs772091077 0.00002
NM_003705.5(SLC25A12):c.473A>G (p.Gln158Arg) rs763968523 0.00002
NM_003705.5(SLC25A12):c.474A>G (p.Gln158=) rs200974554 0.00002
NM_003705.5(SLC25A12):c.672G>A (p.Ser224=) rs781728630 0.00002
NM_003705.5(SLC25A12):c.698G>A (p.Arg233His) rs780217724 0.00002
NM_003705.5(SLC25A12):c.752-17T>C rs769190155 0.00002
NM_003705.5(SLC25A12):c.775C>T (p.Arg259Cys) rs775614655 0.00002
NM_003705.5(SLC25A12):c.7G>A (p.Val3Ile) rs769545575 0.00002
NM_003705.5(SLC25A12):c.942G>T (p.Gly314=) rs752010390 0.00002
NM_003705.5(SLC25A12):c.1013-4G>A rs759281812 0.00001
NM_003705.5(SLC25A12):c.1035T>C (p.Tyr345=) rs748785851 0.00001
NM_003705.5(SLC25A12):c.1044T>C (p.Asp348=) rs772780668 0.00001
NM_003705.5(SLC25A12):c.104C>T (p.Thr35Ile) rs141842444 0.00001
NM_003705.5(SLC25A12):c.1157T>C (p.Phe386Ser) rs375107479 0.00001
NM_003705.5(SLC25A12):c.1172-12C>T rs766101294 0.00001
NM_003705.5(SLC25A12):c.1225-17G>A rs1288977179 0.00001
NM_003705.5(SLC25A12):c.1241G>A (p.Arg414Gln) rs1363559507 0.00001
NM_003705.5(SLC25A12):c.125G>A (p.Arg42His) rs143779282 0.00001
NM_003705.5(SLC25A12):c.1267T>C (p.Ser423Pro) rs760263877 0.00001
NM_003705.5(SLC25A12):c.1324A>G (p.Ile442Val) rs776760815 0.00001
NM_003705.5(SLC25A12):c.13G>C (p.Val5Leu) rs201557997 0.00001
NM_003705.5(SLC25A12):c.1417C>T (p.Arg473Trp) rs483352725 0.00001
NM_003705.5(SLC25A12):c.1445A>G (p.Lys482Arg) rs765660768 0.00001
NM_003705.5(SLC25A12):c.1446+20A>G rs768323336 0.00001
NM_003705.5(SLC25A12):c.1446+9G>A rs762242454 0.00001
NM_003705.5(SLC25A12):c.147T>A (p.Asp49Glu) rs749405862 0.00001
NM_003705.5(SLC25A12):c.1533T>G (p.Asp511Glu) rs774997369 0.00001
NM_003705.5(SLC25A12):c.1548G>A (p.Val516=) rs772468981 0.00001
NM_003705.5(SLC25A12):c.1557A>T (p.Leu519Phe) rs372205183 0.00001
NM_003705.5(SLC25A12):c.1619A>G (p.Asp540Gly) rs756455673 0.00001
NM_003705.5(SLC25A12):c.1624A>G (p.Ile542Val) rs1056421102 0.00001
NM_003705.5(SLC25A12):c.1681A>G (p.Ile561Val) rs1203070682 0.00001
NM_003705.5(SLC25A12):c.1683C>T (p.Ile561=) rs370935201 0.00001
NM_003705.5(SLC25A12):c.168C>T (p.Ile56=) rs189737263 0.00001
NM_003705.5(SLC25A12):c.16C>T (p.Gln6Ter) rs145411666 0.00001
NM_003705.5(SLC25A12):c.1705C>T (p.Arg569Trp) rs1378635484 0.00001
NM_003705.5(SLC25A12):c.1717C>T (p.Pro573Ser) rs911319543 0.00001
NM_003705.5(SLC25A12):c.1719C>T (p.Pro573=) rs1368008717 0.00001
NM_003705.5(SLC25A12):c.171G>A (p.Val57=) rs1323483762 0.00001
NM_003705.5(SLC25A12):c.1737G>A (p.Gly579=) rs188048899 0.00001
NM_003705.5(SLC25A12):c.1738A>G (p.Thr580Ala) rs748887957 0.00001
NM_003705.5(SLC25A12):c.1754T>C (p.Phe585Ser) rs760496959 0.00001
NM_003705.5(SLC25A12):c.1790C>T (p.Thr597Ile) rs1690512788 0.00001
NM_003705.5(SLC25A12):c.1791T>C (p.Thr597=) rs1363822319 0.00001
NM_003705.5(SLC25A12):c.1808G>A (p.Arg603Gln) rs375819100 0.00001
NM_003705.5(SLC25A12):c.1829G>A (p.Gly610Glu) rs772825491 0.00001
NM_003705.5(SLC25A12):c.1869A>G (p.Ser623=) rs1414259441 0.00001
NM_003705.5(SLC25A12):c.1924G>A (p.Ala642Thr) rs200391757 0.00001
NM_003705.5(SLC25A12):c.1947C>T (p.Ile649=) rs199526039 0.00001
NM_003705.5(SLC25A12):c.1953C>T (p.Asn651=) rs757378622 0.00001
NM_003705.5(SLC25A12):c.1973C>T (p.Pro658Leu) rs754742634 0.00001
NM_003705.5(SLC25A12):c.1981A>C (p.Lys661Gln) rs758268906 0.00001
NM_003705.5(SLC25A12):c.1998T>C (p.Ala666=) rs764606563 0.00001
NM_003705.5(SLC25A12):c.2009C>T (p.Pro670Leu) rs78523632 0.00001
NM_003705.5(SLC25A12):c.204G>A (p.Lys68=) rs200464056 0.00001
NM_003705.5(SLC25A12):c.22A>G (p.Thr8Ala) rs780554394 0.00001
NM_003705.5(SLC25A12):c.336A>T (p.Lys112Asn) rs1684750084 0.00001
NM_003705.5(SLC25A12):c.405G>A (p.Leu135=) rs900868350 0.00001
NM_003705.5(SLC25A12):c.420C>A (p.Asn140Lys) rs1333655525 0.00001
NM_003705.5(SLC25A12):c.421C>T (p.Arg141Trp) rs779584325 0.00001
NM_003705.5(SLC25A12):c.422G>A (p.Arg141Gln) rs758739467 0.00001
NM_003705.5(SLC25A12):c.451A>G (p.Thr151Ala) rs757897523 0.00001
NM_003705.5(SLC25A12):c.452C>T (p.Thr151Met) rs187566712 0.00001
NM_003705.5(SLC25A12):c.453G>A (p.Thr151=) rs534382093 0.00001
NM_003705.5(SLC25A12):c.465+15C>T rs1431456826 0.00001
NM_003705.5(SLC25A12):c.465+20C>G rs767661499 0.00001
NM_003705.5(SLC25A12):c.466-5C>T rs767755067 0.00001
NM_003705.5(SLC25A12):c.526A>G (p.Met176Val) rs774164133 0.00001
NM_003705.5(SLC25A12):c.613-17G>A rs774109066 0.00001
NM_003705.5(SLC25A12):c.613-9A>C rs1444338345 0.00001
NM_003705.5(SLC25A12):c.628A>G (p.Ile210Val) rs1464729446 0.00001
NM_003705.5(SLC25A12):c.657C>T (p.Phe219=) rs1325763421 0.00001
NM_003705.5(SLC25A12):c.67-10A>T rs745928973 0.00001
NM_003705.5(SLC25A12):c.671C>T (p.Ser224Leu) rs748532988 0.00001
NM_003705.5(SLC25A12):c.751+17T>C rs575491061 0.00001
NM_003705.5(SLC25A12):c.751+18A>G rs767526148 0.00001
NM_003705.5(SLC25A12):c.792A>G (p.Thr264=) rs781256706 0.00001
NM_003705.5(SLC25A12):c.845+13A>G rs987976620 0.00001
NM_003705.5(SLC25A12):c.845+8T>G rs375831803 0.00001
NM_003705.5(SLC25A12):c.846-15A>G rs757804044 0.00001
NM_003705.5(SLC25A12):c.870G>C (p.Glu290Asp) rs757002057 0.00001
NM_003705.5(SLC25A12):c.893G>A (p.Gly298Glu) rs368437273 0.00001
NM_003705.5(SLC25A12):c.931-6C>T rs777435881 0.00001
NM_003705.5(SLC25A12):c.932A>G (p.Gln311Arg) rs1558916776 0.00001
NM_003705.5(SLC25A12):c.972C>T (p.Ala324=) rs200048270 0.00001
NM_003705.5(SLC25A12):c.973G>A (p.Glu325Lys) rs1485259742 0.00001
NC_000002.11:g.(?_172641784)_(172644477_?)dup
NC_000002.11:g.(?_172641784)_(172712479_?)dup
NC_000002.11:g.(?_172647941)_(172750724_?)dup
NC_000002.11:g.(?_172669829)_(172671732_?)del
NC_000002.11:g.(?_172669829)_(172750724_?)dup
NC_000002.11:g.(?_172725171)_(172725353_?)del
NC_000002.11:g.(?_172749695)_(172750724_?)dup
NM_003705.5(SLC25A12):c.1013-10C>G rs2105863153
NM_003705.5(SLC25A12):c.1029dup (p.Val344fs)
NM_003705.5(SLC25A12):c.1036C>T (p.Pro346Ser) rs1298530698
NM_003705.5(SLC25A12):c.1045C>G (p.Leu349Val)
NM_003705.5(SLC25A12):c.1045C>T (p.Leu349=) rs769294226
NM_003705.5(SLC25A12):c.1047G>A (p.Leu349=)
NM_003705.5(SLC25A12):c.1053G>A (p.Lys351=)
NM_003705.5(SLC25A12):c.1054A>G (p.Thr352Ala)
NM_003705.5(SLC25A12):c.1057C>T (p.Arg353Ter)
NM_003705.5(SLC25A12):c.1058G>A (p.Arg353Gln) rs886037851
NM_003705.5(SLC25A12):c.1081G>A (p.Gly361Ser) rs1341653152
NM_003705.5(SLC25A12):c.1089T>A (p.Val363=) rs2105863043
NM_003705.5(SLC25A12):c.1122C>T (p.Asp374=)
NM_003705.5(SLC25A12):c.1130A>C (p.Lys377Thr)
NM_003705.5(SLC25A12):c.114C>T (p.Asp38=)
NM_003705.5(SLC25A12):c.1171+17C>T
NM_003705.5(SLC25A12):c.1171+3_1171+6del rs1248106739
NM_003705.5(SLC25A12):c.1172-10C>T rs2105859433
NM_003705.5(SLC25A12):c.1172-10del rs535710884
NM_003705.5(SLC25A12):c.1172-39_1172-20del rs757028288
NM_003705.5(SLC25A12):c.1178T>C (p.Ile393Thr) rs1449509283
NM_003705.5(SLC25A12):c.1188T>C (p.Leu396=) rs2105859396
NM_003705.5(SLC25A12):c.1193G>T (p.Gly398Val)
NM_003705.5(SLC25A12):c.1194G>T (p.Gly398=)
NM_003705.5(SLC25A12):c.12+10A>G rs2105938815
NM_003705.5(SLC25A12):c.12+10A>T
NM_003705.5(SLC25A12):c.12+11C>T rs780177294
NM_003705.5(SLC25A12):c.12+12T>A
NM_003705.5(SLC25A12):c.12+19T>C
NM_003705.5(SLC25A12):c.12+7C>T rs372252947
NM_003705.5(SLC25A12):c.12+8C>T
NM_003705.5(SLC25A12):c.12+8dup
NM_003705.5(SLC25A12):c.12+9A>G rs2105938818
NM_003705.5(SLC25A12):c.1207A>G (p.Lys403Glu) rs2105859385
NM_003705.5(SLC25A12):c.1224+18T>C
NM_003705.5(SLC25A12):c.1224+1_1224+2del rs1683920780
NM_003705.5(SLC25A12):c.1224+8T>C
NM_003705.5(SLC25A12):c.1225-12C>A
NM_003705.5(SLC25A12):c.1225-15T>C
NM_003705.5(SLC25A12):c.1225-16T>G
NM_003705.5(SLC25A12):c.1225-5A>G
NM_003705.5(SLC25A12):c.1225-7T>A
NM_003705.5(SLC25A12):c.1225-8C>G rs2105858833
NM_003705.5(SLC25A12):c.1230T>C (p.Asn410=)
NM_003705.5(SLC25A12):c.1247A>G (p.Lys416Arg)
NM_003705.5(SLC25A12):c.124C>A (p.Arg42Ser) rs150674046
NM_003705.5(SLC25A12):c.124C>T (p.Arg42Cys) rs150674046
NM_003705.5(SLC25A12):c.125G>T (p.Arg42Leu) rs143779282
NM_003705.5(SLC25A12):c.1268C>G (p.Ser423Cys) rs1683909727
NM_003705.5(SLC25A12):c.1269T>C (p.Ser423=)
NM_003705.5(SLC25A12):c.1273C>G (p.Pro425Ala) rs775253855
NM_003705.5(SLC25A12):c.1283C>G (p.Ala428Gly) rs759968024
NM_003705.5(SLC25A12):c.1290T>G (p.Val430=)
NM_003705.5(SLC25A12):c.1291C>G (p.Leu431Val) rs371208996
NM_003705.5(SLC25A12):c.13-15dup
NM_003705.5(SLC25A12):c.13-16T>C
NM_003705.5(SLC25A12):c.13-16del rs751172779
NM_003705.5(SLC25A12):c.13-16dup
NM_003705.5(SLC25A12):c.13-18T>C
NM_003705.5(SLC25A12):c.13-1_13del
NM_003705.5(SLC25A12):c.13-5T>A
NM_003705.5(SLC25A12):c.13-7C>T rs1223925219
NM_003705.5(SLC25A12):c.13-8G>T rs1357805870
NM_003705.5(SLC25A12):c.13-9del
NM_003705.5(SLC25A12):c.1304_1305+2del rs2105858730
NM_003705.5(SLC25A12):c.1305+7A>G rs2105858725
NM_003705.5(SLC25A12):c.1306-12C>G
NM_003705.5(SLC25A12):c.1306-16T>A
NM_003705.5(SLC25A12):c.1306-17T>C
NM_003705.5(SLC25A12):c.1306-18_1306-17del
NM_003705.5(SLC25A12):c.1306-19T>C
NM_003705.5(SLC25A12):c.1306-3C>T rs1683538108
NM_003705.5(SLC25A12):c.130C>T (p.Leu44Phe)
NM_003705.5(SLC25A12):c.1320G>A (p.Gln440=)
NM_003705.5(SLC25A12):c.1334A>G (p.Asn445Ser)
NM_003705.5(SLC25A12):c.1338A>C (p.Pro446=) rs149278617
NM_003705.5(SLC25A12):c.1338A>G (p.Pro446=) rs149278617
NM_003705.5(SLC25A12):c.1342G>A (p.Glu448Lys)
NM_003705.5(SLC25A12):c.1350G>T (p.Val450=)
NM_003705.5(SLC25A12):c.135A>C (p.Gly45=)
NM_003705.5(SLC25A12):c.1365A>G (p.Gln455=)
NM_003705.5(SLC25A12):c.1367T>C (p.Val456Ala)
NM_003705.5(SLC25A12):c.1368A>G (p.Val456=)
NM_003705.5(SLC25A12):c.1368A>T (p.Val456=) rs375681429
NM_003705.5(SLC25A12):c.1370C>G (p.Ala457Gly)
NM_003705.5(SLC25A12):c.1374A>G (p.Gly458=)
NM_003705.5(SLC25A12):c.139T>C (p.Tyr47His) rs932756735
NM_003705.5(SLC25A12):c.1413G>C (p.Val471=)
NM_003705.5(SLC25A12):c.1415T>C (p.Leu472Pro) rs1459605498
NM_003705.5(SLC25A12):c.1422C>T (p.Asp474=)
NM_003705.5(SLC25A12):c.1444A>G (p.Lys482Glu)
NM_003705.5(SLC25A12):c.1446+13A>C rs2105840016
NM_003705.5(SLC25A12):c.1446+5G>A rs1683534505
NM_003705.5(SLC25A12):c.1446+6T>G
NM_003705.5(SLC25A12):c.1447-20A>G
NM_003705.5(SLC25A12):c.1447-5G>C
NM_003705.5(SLC25A12):c.1457C>T (p.Ala486Val)
NM_003705.5(SLC25A12):c.145G>A (p.Asp49Asn)
NM_003705.5(SLC25A12):c.1468C>A (p.Arg490=)
NM_003705.5(SLC25A12):c.1468C>T (p.Arg490Ter) rs762189046
NM_003705.5(SLC25A12):c.1469G>A (p.Arg490Gln) rs2105837625
NM_003705.5(SLC25A12):c.1472A>G (p.Asp491Gly)
NM_003705.5(SLC25A12):c.1474A>G (p.Ile492Val) rs1683457851
NM_003705.5(SLC25A12):c.1479C>T (p.Pro493=)
NM_003705.5(SLC25A12):c.1481T>A (p.Phe494Tyr)
NM_003705.5(SLC25A12):c.1485T>C (p.Ser495=)
NM_003705.5(SLC25A12):c.1489A>G (p.Ile497Val)
NM_003705.5(SLC25A12):c.1492T>C (p.Tyr498His) rs1174844861
NM_003705.5(SLC25A12):c.1502T>C (p.Val501Ala)
NM_003705.5(SLC25A12):c.1511A>G (p.His504Arg)
NM_003705.5(SLC25A12):c.1512T>C (p.His504=)
NM_003705.5(SLC25A12):c.1530T>G (p.Ala510=)
NM_003705.5(SLC25A12):c.1545C>G (p.His515Gln)
NM_003705.5(SLC25A12):c.1545C>T (p.His515=)
NM_003705.5(SLC25A12):c.1552G>A (p.Gly518Ser) rs1574673741
NM_003705.5(SLC25A12):c.1566T>A (p.Leu522=) rs2105837468
NM_003705.5(SLC25A12):c.1568C>T (p.Ala523Val) rs757596167
NM_003705.5(SLC25A12):c.1584A>G (p.Ala528=) rs2105837445
NM_003705.5(SLC25A12):c.1585+10A>C rs1574673699
NM_003705.5(SLC25A12):c.1585+11A>T
NM_003705.5(SLC25A12):c.1585+11dup
NM_003705.5(SLC25A12):c.1585+12T>C
NM_003705.5(SLC25A12):c.1585+15T>A
NM_003705.5(SLC25A12):c.1585+20del rs763137108
NM_003705.5(SLC25A12):c.1585+5C>T
NM_003705.5(SLC25A12):c.1586-11del
NM_003705.5(SLC25A12):c.1586-11dup
NM_003705.5(SLC25A12):c.1586-13T>C
NM_003705.5(SLC25A12):c.1586-15G>C
NM_003705.5(SLC25A12):c.1586-20A>G
NM_003705.5(SLC25A12):c.1586-23_1586-19del
NM_003705.5(SLC25A12):c.159C>T (p.Asn53=) rs2105917757
NM_003705.5(SLC25A12):c.1606G>A (p.Val536Met) rs748942976
NM_003705.5(SLC25A12):c.1611C>G (p.Thr537=)
NM_003705.5(SLC25A12):c.1611C>T (p.Thr537=) rs1690518844
NM_003705.5(SLC25A12):c.1631C>G (p.Thr544Arg) rs2105832837
NM_003705.5(SLC25A12):c.1636C>T (p.Leu546=)
NM_003705.5(SLC25A12):c.1645G>A (p.Ala549Thr)
NM_003705.5(SLC25A12):c.1651C>T (p.Arg551Cys)
NM_003705.5(SLC25A12):c.1679T>A (p.Val560Asp) rs2105832767
NM_003705.5(SLC25A12):c.1684G>A (p.Asp562Asn)
NM_003705.5(SLC25A12):c.1685A>T (p.Asp562Val) rs775466306
NM_003705.5(SLC25A12):c.1692C>A (p.Phe564Leu) rs771960655
NM_003705.5(SLC25A12):c.1692C>T (p.Phe564=) rs771960655
NM_003705.5(SLC25A12):c.1693A>C (p.Arg565=) rs745378330
NM_003705.5(SLC25A12):c.1700T>C (p.Ile567Thr) rs1690517077
NM_003705.5(SLC25A12):c.1702C>T (p.Leu568Phe) rs1417635052
NM_003705.5(SLC25A12):c.1714G>A (p.Gly572Arg)
NM_003705.5(SLC25A12):c.1740T>A (p.Thr580=)
NM_003705.5(SLC25A12):c.1744+11G>T
NM_003705.5(SLC25A12):c.1744+14G>A
NM_003705.5(SLC25A12):c.1744+15G>A
NM_003705.5(SLC25A12):c.1744+5G>A
NM_003705.5(SLC25A12):c.1745-14C>T
NM_003705.5(SLC25A12):c.1745-9_1745-8del rs2105832462
NM_003705.5(SLC25A12):c.1749A>C (p.Arg583=) rs1369539430
NM_003705.5(SLC25A12):c.1749A>G (p.Arg583=)
NM_003705.5(SLC25A12):c.1763C>G (p.Ser588Cys)
NM_003705.5(SLC25A12):c.1777G>A (p.Val593Ile) rs1060501189
NM_003705.5(SLC25A12):c.177C>T (p.Leu59=)
NM_003705.5(SLC25A12):c.1785G>A (p.Leu595=) rs1574670497
NM_003705.5(SLC25A12):c.1811G>T (p.Trp604Leu) rs1446490780
NM_003705.5(SLC25A12):c.1819A>T (p.Ile607Phe) rs1690512314
NM_003705.5(SLC25A12):c.1820T>C (p.Ile607Thr)
NM_003705.5(SLC25A12):c.1821T>G (p.Ile607Met)
NM_003705.5(SLC25A12):c.182C>T (p.Ala61Val) rs1685396498
NM_003705.5(SLC25A12):c.1835+10C>A rs542542639
NM_003705.5(SLC25A12):c.1835+17A>T
NM_003705.5(SLC25A12):c.1836-18C>T
NM_003705.5(SLC25A12):c.1842C>T (p.Pro614=)
NM_003705.5(SLC25A12):c.1848T>G (p.Gly616=)
NM_003705.5(SLC25A12):c.1848_1849insG (p.Ser617fs)
NM_003705.5(SLC25A12):c.1855C>G (p.Pro619Ala) rs1690470559
NM_003705.5(SLC25A12):c.1860A>G (p.Thr620=)
NM_003705.5(SLC25A12):c.1871G>A (p.Arg624His)
NM_003705.5(SLC25A12):c.188T>C (p.Val63Ala) rs2105917724
NM_003705.5(SLC25A12):c.1896C>A (p.Asn632Lys) rs2105829539
NM_003705.5(SLC25A12):c.189A>G (p.Val63=) rs756682372
NM_003705.5(SLC25A12):c.1908C>T (p.Ile636=)
NM_003705.5(SLC25A12):c.1915T>C (p.Tyr639His)
NM_003705.5(SLC25A12):c.1923C>T (p.Leu641=) rs113486658
NM_003705.5(SLC25A12):c.1935G>A (p.Thr645=)
NM_003705.5(SLC25A12):c.1935_2030del (p.Phe646_Thr677del) rs2105829329
NM_003705.5(SLC25A12):c.1943G>A (p.Gly648Asp)
NM_003705.5(SLC25A12):c.1947C>G (p.Ile649Met) rs199526039
NM_003705.5(SLC25A12):c.1948G>A (p.Glu650Lys) rs778800333
NM_003705.5(SLC25A12):c.1963C>T (p.Leu655Phe) rs749429197
NM_003705.5(SLC25A12):c.1969C>T (p.Leu657Phe)
NM_003705.5(SLC25A12):c.1977A>G (p.Lys659=)
NM_003705.5(SLC25A12):c.1979T>A (p.Phe660Tyr) rs2105829416
NM_003705.5(SLC25A12):c.2001G>A (p.Val667=) rs1355923599
NM_003705.5(SLC25A12):c.201C>G (p.Thr67=) rs2105917708
NM_003705.5(SLC25A12):c.2020G>C (p.Val674Leu) rs761108884
NM_003705.5(SLC25A12):c.2022G>T (p.Val674=)
NM_003705.5(SLC25A12):c.2029A>T (p.Thr677Ser) rs772577546
NM_003705.5(SLC25A12):c.209+13A>G
NM_003705.5(SLC25A12):c.209+3A>G rs1449169785
NM_003705.5(SLC25A12):c.210-12A>G
NM_003705.5(SLC25A12):c.210-14A>T
NM_003705.5(SLC25A12):c.210-19G>A
NM_003705.5(SLC25A12):c.210-21_210-20inv
NM_003705.5(SLC25A12):c.221A>G (p.Tyr74Cys)
NM_003705.5(SLC25A12):c.228G>A (p.Glu76=)
NM_003705.5(SLC25A12):c.252A>G (p.Leu84=)
NM_003705.5(SLC25A12):c.254G>T (p.Cys85Phe)
NM_003705.5(SLC25A12):c.25A>G (p.Lys9Glu) rs1685983663
NM_003705.5(SLC25A12):c.266C>T (p.Ser89Phe)
NM_003705.5(SLC25A12):c.268A>G (p.Met90Val)
NM_003705.5(SLC25A12):c.269T>C (p.Met90Thr) rs1573986066
NM_003705.5(SLC25A12):c.271T>G (p.Phe91Val)
NM_003705.5(SLC25A12):c.272T>C (p.Phe91Ser) rs2105905847
NM_003705.5(SLC25A12):c.273C>T (p.Phe91=)
NM_003705.5(SLC25A12):c.288GTT[1] (p.Leu97del) rs1573986032
NM_003705.5(SLC25A12):c.28C>T (p.Arg10Ter)
NM_003705.5(SLC25A12):c.308A>G (p.Asn103Ser) rs761996149
NM_003705.5(SLC25A12):c.309T>C (p.Asn103=) rs776954799
NM_003705.5(SLC25A12):c.320C>T (p.Thr107Ile)
NM_003705.5(SLC25A12):c.321A>G (p.Thr107=)
NM_003705.5(SLC25A12):c.325+12A>T
NM_003705.5(SLC25A12):c.325+15_325+17del
NM_003705.5(SLC25A12):c.325+17A>G
NM_003705.5(SLC25A12):c.325+5G>T
NM_003705.5(SLC25A12):c.325+6G>A
NM_003705.5(SLC25A12):c.326-19T>G
NM_003705.5(SLC25A12):c.331G>T (p.Val111Phe) rs1684750217
NM_003705.5(SLC25A12):c.335A>C (p.Lys112Thr) rs1047272344
NM_003705.5(SLC25A12):c.335A>G (p.Lys112Arg) rs1047272344
NM_003705.5(SLC25A12):c.337G>C (p.Glu113Gln)
NM_003705.5(SLC25A12):c.35A>C (p.Asp12Ala) rs150071586
NM_003705.5(SLC25A12):c.401G>A (p.Arg134Gln) rs768292187
NM_003705.5(SLC25A12):c.414G>T (p.Gly138=)
NM_003705.5(SLC25A12):c.416A>G (p.His139Arg)
NM_003705.5(SLC25A12):c.436_438del (p.Asn146del) rs1573977050
NM_003705.5(SLC25A12):c.453G>C (p.Thr151=) rs534382093
NM_003705.5(SLC25A12):c.453G>T (p.Thr151=) rs534382093
NM_003705.5(SLC25A12):c.465+18_465+19del rs1558928557
NM_003705.5(SLC25A12):c.465+19A>G
NM_003705.5(SLC25A12):c.466-20T>C rs1034120282
NM_003705.5(SLC25A12):c.471G>A (p.Leu157=)
NM_003705.5(SLC25A12):c.483T>C (p.His161=) rs1361327902
NM_003705.5(SLC25A12):c.492A>G (p.Gln164=) rs2105888933
NM_003705.5(SLC25A12):c.502C>G (p.Leu168Val) rs1684579049
NM_003705.5(SLC25A12):c.504C>T (p.Leu168=)
NM_003705.5(SLC25A12):c.50_52del (p.Arg17del) rs1276271285
NM_003705.5(SLC25A12):c.513A>G (p.Lys171=) rs2105888912
NM_003705.5(SLC25A12):c.548G>C (p.Ser183Thr) rs2105888897
NM_003705.5(SLC25A12):c.549T>G (p.Ser183Arg) rs2105888894
NM_003705.5(SLC25A12):c.550G>T (p.Asp184Tyr) rs1367811893
NM_003705.5(SLC25A12):c.551A>G (p.Asp184Gly) rs1164660591
NM_003705.5(SLC25A12):c.559G>T (p.Val187Phe) rs1429533707
NM_003705.5(SLC25A12):c.568A>C (p.Arg190=)
NM_003705.5(SLC25A12):c.57_58del (p.Phe20fs) rs1268834418
NM_003705.5(SLC25A12):c.585T>G (p.Thr195=)
NM_003705.5(SLC25A12):c.597G>A (p.Glu199=) rs1374644206
NM_003705.5(SLC25A12):c.602_607del (p.Asn201_Val203delinsIle) rs1684577522
NM_003705.5(SLC25A12):c.612+11A>G rs2105888846
NM_003705.5(SLC25A12):c.612+7A>G
NM_003705.5(SLC25A12):c.613-10C>A rs1181381877
NM_003705.5(SLC25A12):c.613-19T>G
NM_003705.5(SLC25A12):c.615A>T (p.Ala205=)
NM_003705.5(SLC25A12):c.630C>T (p.Ile210=)
NM_003705.5(SLC25A12):c.650C>G (p.Ser217Cys) rs2105886696
NM_003705.5(SLC25A12):c.66+12T>G
NM_003705.5(SLC25A12):c.66+13G>C
NM_003705.5(SLC25A12):c.66+15A>G
NM_003705.5(SLC25A12):c.66+3A>G rs1685982729
NM_003705.5(SLC25A12):c.66+9G>C
NM_003705.5(SLC25A12):c.66+9G>T rs752526777
NM_003705.5(SLC25A12):c.660T>C (p.Asn220=)
NM_003705.5(SLC25A12):c.67-10del
NM_003705.5(SLC25A12):c.67-11T>A
NM_003705.5(SLC25A12):c.67-14A>G
NM_003705.5(SLC25A12):c.67-17T>C
NM_003705.5(SLC25A12):c.67-18ATTT[2] rs764075148
NM_003705.5(SLC25A12):c.693T>C (p.Leu231=)
NM_003705.5(SLC25A12):c.6G>A (p.Ala2=)
NM_003705.5(SLC25A12):c.706T>C (p.Tyr236His) rs1684521797
NM_003705.5(SLC25A12):c.707A>G (p.Tyr236Cys) rs1684521748
NM_003705.5(SLC25A12):c.732A>G (p.Lys244=) rs1423056428
NM_003705.5(SLC25A12):c.735T>C (p.Asp245=) rs201190552
NM_003705.5(SLC25A12):c.737T>G (p.Val246Gly) rs755954046
NM_003705.5(SLC25A12):c.744C>T (p.Val248=)
NM_003705.5(SLC25A12):c.751+12A>C
NM_003705.5(SLC25A12):c.751+8T>G
NM_003705.5(SLC25A12):c.752-12del rs763108216
NM_003705.5(SLC25A12):c.752-14T>A
NM_003705.5(SLC25A12):c.760G>T (p.Ala254Ser)
NM_003705.5(SLC25A12):c.777C>G (p.Arg259=) rs202132464
NM_003705.5(SLC25A12):c.78T>G (p.Thr26=)
NM_003705.5(SLC25A12):c.821T>C (p.Leu274Pro)
NM_003705.5(SLC25A12):c.832T>C (p.Tyr278His) rs891832225
NM_003705.5(SLC25A12):c.845+16A>G
NM_003705.5(SLC25A12):c.845+18T>A
NM_003705.5(SLC25A12):c.845+19C>A
NM_003705.5(SLC25A12):c.845+1del rs2105885940
NM_003705.5(SLC25A12):c.845+4_845+7del rs770253025
NM_003705.5(SLC25A12):c.846-11T>C
NM_003705.5(SLC25A12):c.846-6C>T
NM_003705.5(SLC25A12):c.846-9T>G
NM_003705.5(SLC25A12):c.846G>A (p.Gly282=) rs1684311624
NM_003705.5(SLC25A12):c.847C>T (p.Arg283Cys) rs1439144531
NM_003705.5(SLC25A12):c.848G>A (p.Arg283His) rs1558921439
NM_003705.5(SLC25A12):c.881dup (p.Leu295fs)
NM_003705.5(SLC25A12):c.882A>G (p.Pro294=) rs2105878703
NM_003705.5(SLC25A12):c.883T>C (p.Leu295=)
NM_003705.5(SLC25A12):c.886G>C (p.Ala296Pro) rs1684310619
NM_003705.5(SLC25A12):c.894G>A (p.Gly298=) rs2105878680
NM_003705.5(SLC25A12):c.895G>A (p.Ala299Thr) rs1684310325
NM_003705.5(SLC25A12):c.90A>G (p.Gly30=) rs2105917843
NM_003705.5(SLC25A12):c.910C>T (p.Leu304=) rs372449488
NM_003705.5(SLC25A12):c.911T>C (p.Leu304Pro)
NM_003705.5(SLC25A12):c.930+10A>G rs2105878613
NM_003705.5(SLC25A12):c.931-16G>A
NM_003705.5(SLC25A12):c.931-16_931-15insC
NM_003705.5(SLC25A12):c.931-19C>T
NM_003705.5(SLC25A12):c.931-20A>C rs1484130163
NM_003705.5(SLC25A12):c.941G>T (p.Gly314Val)
NM_003705.5(SLC25A12):c.947G>C (p.Gly316Ala) rs2105864972
NM_003705.5(SLC25A12):c.950G>A (p.Arg317Lys)
NM_003705.5(SLC25A12):c.958T>A (p.Trp320Arg) rs2105864950
NM_003705.5(SLC25A12):c.968T>C (p.Ile323Thr) rs2105864919
NM_003705.5(SLC25A12):c.984C>T (p.Tyr328=)
NM_003705.5(SLC25A12):c.985A>C (p.Arg329=)

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