ClinVar Miner

List of variants in gene combination AIFM1, RAB33A reported as uncertain significance for combined oxidative phosphorylation deficiency

Included ClinVar conditions (81):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 128
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HGVS dbSNP gnomAD frequency
NM_004208.4(AIFM1):c.-185G>A rs770317876 0.00080
NM_004208.4(AIFM1):c.170C>G (p.Ser57Cys) rs201711375 0.00010
NM_004208.4(AIFM1):c.1627A>G (p.Ile543Val) rs1175521163 0.00006
NM_004208.4(AIFM1):c.1156G>A (p.Gly386Ser) rs746155778 0.00005
NM_004208.4(AIFM1):c.893G>A (p.Arg298Gln) rs766786579 0.00005
NM_004208.4(AIFM1):c.1036G>A (p.Glu346Lys) rs746856770 0.00004
NM_004208.4(AIFM1):c.1597G>A (p.Glu533Lys) rs1057517852 0.00004
NM_004208.4(AIFM1):c.110A>C (p.Asn37Thr) rs1353159825 0.00003
NM_004208.4(AIFM1):c.1681G>A (p.Gly561Ser) rs941734227 0.00003
NM_004208.4(AIFM1):c.952G>A (p.Ala318Thr) rs773680831 0.00003
NM_004208.4(AIFM1):c.1058T>C (p.Met353Thr) rs1157071585 0.00002
NM_004208.4(AIFM1):c.1465G>A (p.Asp489Asn) rs748493176 0.00002
NM_004208.4(AIFM1):c.187A>G (p.Lys63Glu) rs142864613 0.00002
NM_004208.4(AIFM1):c.248A>G (p.Tyr83Cys) rs1488258655 0.00002
NM_004208.4(AIFM1):c.370C>A (p.Pro124Thr) rs751325295 0.00002
NM_004208.4(AIFM1):c.1049A>T (p.Asn350Ile) rs1189292666 0.00001
NM_004208.4(AIFM1):c.1105G>T (p.Val369Leu) rs1444952549 0.00001
NM_004208.4(AIFM1):c.1109A>G (p.Gln370Arg) rs149001713 0.00001
NM_004208.4(AIFM1):c.1151A>G (p.Lys384Arg) rs1217648919 0.00001
NM_004208.4(AIFM1):c.1232G>A (p.Gly411Asp) rs753549726 0.00001
NM_004208.4(AIFM1):c.1349G>A (p.Arg450Lys) rs1424829478 0.00001
NM_004208.4(AIFM1):c.1355T>C (p.Val452Ala) rs1356446773 0.00001
NM_004208.4(AIFM1):c.1501A>T (p.Ser501Cys) rs769816388 0.00001
NM_004208.4(AIFM1):c.1594A>G (p.Ser532Gly) rs1603218953 0.00001
NM_004208.4(AIFM1):c.1631C>T (p.Pro544Leu) rs1569415383 0.00001
NM_004208.4(AIFM1):c.1647A>G (p.Ala549=) rs1057515767 0.00001
NM_004208.4(AIFM1):c.1669G>T (p.Gly557Trp) rs1308417889 0.00001
NM_004208.4(AIFM1):c.1674G>C (p.Glu558Asp) rs1391324425 0.00001
NM_004208.4(AIFM1):c.1693A>G (p.Ile565Val) rs1375125488 0.00001
NM_004208.4(AIFM1):c.1751G>A (p.Arg584Gln) rs747871895 0.00001
NM_004208.4(AIFM1):c.1770+5G>T rs754828679 0.00001
NM_004208.4(AIFM1):c.253T>C (p.Tyr85His) rs779484508 0.00001
NM_004208.4(AIFM1):c.350C>T (p.Ala117Val) rs145943366 0.00001
NM_004208.4(AIFM1):c.452G>A (p.Arg151Gln) rs752742151 0.00001
NM_004208.4(AIFM1):c.646G>A (p.Asp216Asn) rs1170792825 0.00001
NM_004208.4(AIFM1):c.721A>G (p.Asn241Asp) rs778430332 0.00001
NM_004208.4(AIFM1):c.845C>T (p.Thr282Met) rs724160017 0.00001
NM_004208.4(AIFM1):c.858+13T>G rs769724106 0.00001
NM_004208.4(AIFM1):c.*49C>T rs1057515766
NM_004208.4(AIFM1):c.1029C>G (p.Ile343Met) rs2124653028
NM_004208.4(AIFM1):c.1073G>A (p.Arg358Gln)
NM_004208.4(AIFM1):c.1081G>A (p.Val361Ile) rs1569417347
NM_004208.4(AIFM1):c.1094C>G (p.Pro365Arg) rs1242184469
NM_004208.4(AIFM1):c.1112C>A (p.Ser371Tyr)
NM_004208.4(AIFM1):c.1114G>A (p.Val372Ile) rs1056740593
NM_004208.4(AIFM1):c.1120G>A (p.Val374Ile) rs1057521792
NM_004208.4(AIFM1):c.1165G>T (p.Val389Leu) rs2124651900
NM_004208.4(AIFM1):c.1174G>A (p.Asp392Asn) rs2124651896
NM_004208.4(AIFM1):c.1181T>C (p.Ile394Thr)
NM_004208.4(AIFM1):c.1208A>G (p.Asn403Ser) rs2030326799
NM_004208.4(AIFM1):c.1227TGG[1] (p.Gly411del) rs2124651780
NM_004208.4(AIFM1):c.122G>A (p.Arg41Gln)
NM_004208.4(AIFM1):c.1267G>A (p.Val423Ile)
NM_004208.4(AIFM1):c.1334T>C (p.Ile445Thr)
NM_004208.4(AIFM1):c.1337A>G (p.Lys446Arg)
NM_004208.4(AIFM1):c.1373C>G (p.Ala458Gly)
NM_004208.4(AIFM1):c.1378G>A (p.Val460Met)
NM_004208.4(AIFM1):c.1412G>A (p.Gly471Glu) rs2124648396
NM_004208.4(AIFM1):c.143_145del (p.Leu48del) rs1227558669
NM_004208.4(AIFM1):c.1441A>G (p.Met481Val)
NM_004208.4(AIFM1):c.1448+12G>A
NM_004208.4(AIFM1):c.1448+5T>C
NM_004208.4(AIFM1):c.147G>C (p.Gln49His) rs867606904
NM_004208.4(AIFM1):c.1481C>T (p.Ala494Val) rs1556254400
NM_004208.4(AIFM1):c.1483A>G (p.Ile495Val) rs2030090475
NM_004208.4(AIFM1):c.1495G>T (p.Asp499Tyr) rs2124646080
NM_004208.4(AIFM1):c.1534A>G (p.Thr512Ala)
NM_004208.4(AIFM1):c.1553A>G (p.Lys518Arg)
NM_004208.4(AIFM1):c.1573+3A>G
NM_004208.4(AIFM1):c.1574-3C>T
NM_004208.4(AIFM1):c.1579G>A (p.Gly527Ser) rs2030006759
NM_004208.4(AIFM1):c.1586G>A (p.Arg529Gln) rs1227079178
NM_004208.4(AIFM1):c.1586G>T (p.Arg529Leu)
NM_004208.4(AIFM1):c.1589C>T (p.Ser530Leu)
NM_004208.4(AIFM1):c.1592A>T (p.Glu531Val) rs1285480966
NM_004208.4(AIFM1):c.1596T>A (p.Ser532Arg)
NM_004208.4(AIFM1):c.1636A>C (p.Ser546Arg)
NM_004208.4(AIFM1):c.1636A>G (p.Ser546Gly)
NM_004208.4(AIFM1):c.1660C>T (p.Pro554Ser) rs2029999918
NM_004208.4(AIFM1):c.1679A>G (p.Tyr560Cys)
NM_004208.4(AIFM1):c.1688G>C (p.Gly563Ala)
NM_004208.4(AIFM1):c.1703T>G (p.Leu568Arg) rs2124644072
NM_004208.4(AIFM1):c.1710C>A (p.Asp570Glu) rs1603218828
NM_004208.4(AIFM1):c.1729G>A (p.Val577Met) rs2124644030
NM_004208.4(AIFM1):c.1781A>C (p.Asp594Ala) rs2029975071
NM_004208.4(AIFM1):c.1783G>A (p.Gly595Ser) rs2124643483
NM_004208.4(AIFM1):c.1805A>G (p.Asn602Ser) rs147206884
NM_004208.4(AIFM1):c.1820T>A (p.Leu607Gln) rs863223899
NM_004208.4(AIFM1):c.186C>T (p.Gly62=) rs1603230128
NM_004208.4(AIFM1):c.193G>C (p.Asp65His)
NM_004208.4(AIFM1):c.202G>A (p.Val68Met) rs2124673763
NM_004208.4(AIFM1):c.214A>G (p.Ile72Val) rs2124673756
NM_004208.4(AIFM1):c.232G>A (p.Val78Ile) rs2031166484
NM_004208.4(AIFM1):c.238G>A (p.Ala80Thr) rs1603230120
NM_004208.4(AIFM1):c.249T>C (p.Tyr83=) rs2124673731
NM_004208.4(AIFM1):c.271G>A (p.Asp91Asn) rs1362616989
NM_004208.4(AIFM1):c.284A>G (p.Tyr95Cys) rs2030882411
NM_004208.4(AIFM1):c.349+6T>C
NM_004208.4(AIFM1):c.350-3C>T
NM_004208.4(AIFM1):c.350-5T>C
NM_004208.4(AIFM1):c.376G>A (p.Asp126Asn)
NM_004208.4(AIFM1):c.397C>A (p.Pro133Thr)
NM_004208.4(AIFM1):c.397C>T (p.Pro133Ser)
NM_004208.4(AIFM1):c.409A>G (p.Ile137Val)
NM_004208.4(AIFM1):c.473G>C (p.Arg158Thr) rs1878089773
NM_004208.4(AIFM1):c.474+3A>G
NM_004208.4(AIFM1):c.474+5G>A
NM_004208.4(AIFM1):c.506C>T (p.Pro169Leu) rs2030801584
NM_004208.4(AIFM1):c.511A>G (p.Met171Val) rs2030801273
NM_004208.4(AIFM1):c.562A>G (p.Thr188Ala)
NM_004208.4(AIFM1):c.602G>A (p.Arg201Lys) rs886703882
NM_004208.4(AIFM1):c.606-14T>A
NM_004208.4(AIFM1):c.606C>T (p.Ser202=) rs2030721376
NM_004208.4(AIFM1):c.630C>A (p.Phe210Leu) rs1603226664
NM_004208.4(AIFM1):c.659T>C (p.Ile220Thr)
NM_004208.4(AIFM1):c.696+3G>A rs2030719224
NM_004208.4(AIFM1):c.697-4C>T rs2030541270
NM_004208.4(AIFM1):c.700G>C (p.Val234Leu)
NM_004208.4(AIFM1):c.722A>G (p.Asn241Ser)
NM_004208.4(AIFM1):c.723C>T (p.Asn241=)
NM_004208.4(AIFM1):c.782-3C>T
NM_004208.4(AIFM1):c.818C>T (p.Ala273Val)
NM_004208.4(AIFM1):c.875G>A (p.Ser292Asn)
NM_004208.4(AIFM1):c.881A>G (p.Glu294Gly)
NM_004208.4(AIFM1):c.937A>G (p.Ser313Gly) rs2124655169
NM_004208.4(AIFM1):c.956T>A (p.Leu319His) rs2030463268
NM_004208.4(AIFM1):c.980G>T (p.Gly327Val) rs2030380751
NM_004208.4(AIFM1):c.986A>G (p.Glu329Gly)

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