ClinVar Miner

List of variants reported as likely benign for Charcot-Marie-Tooth Neuropathy X; Combined oxidative phosphorylation deficiency

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ClinVar version:
Total variants: 149
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HGVS dbSNP gnomAD frequency
NM_004208.4(AIFM1):c.1543G>A (p.Asp515Asn) rs144266307 0.00042
NM_004208.4(AIFM1):c.1609G>A (p.Glu537Lys) rs761765345 0.00011
NM_004208.4(AIFM1):c.605+14T>C rs368859964 0.00011
NM_004208.4(AIFM1):c.340G>A (p.Ala114Thr) rs772308346 0.00010
NM_004208.4(AIFM1):c.1047C>T (p.Ser349=) rs781350745 0.00009
NM_004208.4(AIFM1):c.1075+4G>C rs374943447 0.00009
NM_004208.4(AIFM1):c.287A>G (p.Asn96Ser) rs764149793 0.00008
NM_004208.4(AIFM1):c.342G>A (p.Ala114=) rs773777602 0.00008
NM_004208.4(AIFM1):c.383C>T (p.Ala128Val) rs763912966 0.00007
NM_004208.4(AIFM1):c.1448+8T>C rs779608569 0.00005
NM_004208.4(AIFM1):c.250-5C>T rs200899184 0.00005
NM_004208.4(AIFM1):c.696+16G>A rs748492632 0.00005
NM_004208.4(AIFM1):c.1045A>G (p.Ser349Gly) rs773200122 0.00004
NM_004208.4(AIFM1):c.141A>C (p.Glu47Asp) rs369523358 0.00004
NM_004208.4(AIFM1):c.1475A>G (p.Tyr492Cys) rs61752975 0.00004
NM_004208.4(AIFM1):c.1643C>T (p.Pro548Leu) rs750418813 0.00004
NM_004208.4(AIFM1):c.339C>T (p.Ala113=) rs368967639 0.00004
NM_004208.4(AIFM1):c.556A>G (p.Asn186Asp) rs765298573 0.00004
NM_004208.4(AIFM1):c.63G>A (p.Arg21=) rs756253535 0.00004
NM_004208.4(AIFM1):c.939C>T (p.Ser313=) rs768118991 0.00004
NM_004208.4(AIFM1):c.1113C>T (p.Ser371=) rs724160027 0.00003
NM_004208.4(AIFM1):c.1425G>A (p.Pro475=) rs374163852 0.00003
NM_004208.4(AIFM1):c.1464C>T (p.Pro488=) rs146608893 0.00003
NM_004208.4(AIFM1):c.1479A>G (p.Glu493=) rs748774215 0.00003
NM_004208.4(AIFM1):c.1593G>A (p.Glu531=) rs375825554 0.00003
NM_004208.4(AIFM1):c.1650T>A (p.Val550=) rs764513196 0.00003
NM_004208.4(AIFM1):c.1680C>T (p.Tyr560=) rs776215622 0.00003
NM_004208.4(AIFM1):c.782-4C>A rs376467312 0.00003
NM_004208.4(AIFM1):c.1097A>G (p.Asn366Ser) rs724160019 0.00002
NM_004208.4(AIFM1):c.1149G>A (p.Leu383=) rs773647163 0.00002
NM_004208.4(AIFM1):c.1164+11A>C rs771247192 0.00002
NM_004208.4(AIFM1):c.1305+17A>G rs895181952 0.00002
NM_004208.4(AIFM1):c.1448+14G>C rs370518593 0.00002
NM_004208.4(AIFM1):c.1574-20G>T rs749868550 0.00002
NM_004208.4(AIFM1):c.1663G>A (p.Val555Ile) rs201753098 0.00002
NM_004208.4(AIFM1):c.1707G>A (p.Arg569=) rs2239772 0.00002
NM_004208.4(AIFM1):c.1713A>G (p.Lys571=) rs777563453 0.00002
NM_004208.4(AIFM1):c.1771-13C>T rs183409616 0.00002
NM_004208.4(AIFM1):c.1794T>C (p.His598=) rs768648610 0.00002
NM_004208.4(AIFM1):c.250-9G>C rs769644052 0.00002
NM_004208.4(AIFM1):c.507G>A (p.Pro169=) rs372563704 0.00002
NM_004208.4(AIFM1):c.75C>T (p.Val25=) rs370229006 0.00002
NM_004208.4(AIFM1):c.801G>A (p.Leu267=) rs373960871 0.00002
NM_004208.4(AIFM1):c.971G>A (p.Arg324Gln) rs757644205 0.00002
NM_004208.4(AIFM1):c.1035C>T (p.Pro345=) rs770916538 0.00001
NM_004208.4(AIFM1):c.1473C>T (p.Gly491=) rs1240534182 0.00001
NM_004208.4(AIFM1):c.1758A>C (p.Pro586=) rs1279233558 0.00001
NM_004208.4(AIFM1):c.1770+12T>C rs781186692 0.00001
NM_004208.4(AIFM1):c.1821A>G (p.Leu607=) rs757379335 0.00001
NM_004208.4(AIFM1):c.328C>A (p.Gln110Lys) rs1189401103 0.00001
NM_004208.4(AIFM1):c.349+8T>G rs1057522094 0.00001
NM_004208.4(AIFM1):c.429T>G (p.Ala143=) rs767855836 0.00001
NM_004208.4(AIFM1):c.474+13T>G rs1057522482 0.00001
NM_004208.4(AIFM1):c.605+9G>T rs1191297439 0.00001
NM_004208.4(AIFM1):c.696+15C>T rs374091026 0.00001
NM_004208.4(AIFM1):c.859-13T>C rs755107953 0.00001
NM_004208.4(AIFM1):c.968-8C>T rs1353833575 0.00001
NM_004208.4(AIFM1):c.1005C>T (p.Pro335=)
NM_004208.4(AIFM1):c.1008G>A (p.Glu336=) rs2030378578
NM_004208.4(AIFM1):c.1035C>G (p.Pro345=)
NM_004208.4(AIFM1):c.1044C>T (p.Leu348=)
NM_004208.4(AIFM1):c.106+10C>T
NM_004208.4(AIFM1):c.106+12A>C
NM_004208.4(AIFM1):c.106+19G>A rs1381150691
NM_004208.4(AIFM1):c.1075+18A>G
NM_004208.4(AIFM1):c.1076-10G>A
NM_004208.4(AIFM1):c.1076-14G>C
NM_004208.4(AIFM1):c.1076-6T>C
NM_004208.4(AIFM1):c.1076-7T>C
NM_004208.4(AIFM1):c.1137A>G (p.Leu379=) rs2124652418
NM_004208.4(AIFM1):c.1155C>T (p.Asp385=)
NM_004208.4(AIFM1):c.1161G>A (p.Arg387=)
NM_004208.4(AIFM1):c.1164+9G>A
NM_004208.4(AIFM1):c.1185G>C (p.Val395=) rs2124651866
NM_004208.4(AIFM1):c.1198C>T (p.Leu400=) rs2124651835
NM_004208.4(AIFM1):c.1305+8_1305+9del rs2124651682
NM_004208.4(AIFM1):c.1305+9G>T rs775109386
NM_004208.4(AIFM1):c.1306-4A>G
NM_004208.4(AIFM1):c.1356A>G (p.Val452=)
NM_004208.4(AIFM1):c.1448+11T>C rs2124648315
NM_004208.4(AIFM1):c.1448+16C>G rs2030179917
NM_004208.4(AIFM1):c.1449-10C>G
NM_004208.4(AIFM1):c.1449-5_1449-3del rs761992721
NM_004208.4(AIFM1):c.1559C>T (p.Ala520Val)
NM_004208.4(AIFM1):c.1608C>T (p.Ser536=)
NM_004208.4(AIFM1):c.1630C>T (p.Pro544Ser)
NM_004208.4(AIFM1):c.1662C>T (p.Pro554=) rs2029999691
NM_004208.4(AIFM1):c.1695C>T (p.Ile565=)
NM_004208.4(AIFM1):c.1719C>T (p.Val573=)
NM_004208.4(AIFM1):c.1725G>A (p.Gly575=) rs1603218806
NM_004208.4(AIFM1):c.1734A>G (p.Leu578=) rs2029994748
NM_004208.4(AIFM1):c.173G>T (p.Gly58Val)
NM_004208.4(AIFM1):c.1740C>T (p.Asn580=)
NM_004208.4(AIFM1):c.174T>A (p.Gly58=)
NM_004208.4(AIFM1):c.1770+11G>A
NM_004208.4(AIFM1):c.1770+7G>T
NM_004208.4(AIFM1):c.1771-11C>T rs2029975937
NM_004208.4(AIFM1):c.1771-12T>C
NM_004208.4(AIFM1):c.1771-14T>A
NM_004208.4(AIFM1):c.1771-16_1771-13del
NM_004208.4(AIFM1):c.1771-8T>C
NM_004208.4(AIFM1):c.1779G>A (p.Lys593=)
NM_004208.4(AIFM1):c.19C>T (p.Leu7=)
NM_004208.4(AIFM1):c.249+18G>A
NM_004208.4(AIFM1):c.249+20G>A
NM_004208.4(AIFM1):c.250-6C>A
NM_004208.4(AIFM1):c.250-9G>A
NM_004208.4(AIFM1):c.258G>T (p.Lys86Asn)
NM_004208.4(AIFM1):c.273_274inv (p.Glu92Lys)
NM_004208.4(AIFM1):c.310C>T (p.Leu104=)
NM_004208.4(AIFM1):c.318A>G (p.Pro106=)
NM_004208.4(AIFM1):c.349+13_349+14insTCCCTAC
NM_004208.4(AIFM1):c.350-16G>A
NM_004208.4(AIFM1):c.42G>A (p.Gln14=)
NM_004208.4(AIFM1):c.46C>T (p.Leu16=)
NM_004208.4(AIFM1):c.474+8G>A
NM_004208.4(AIFM1):c.475-8G>A
NM_004208.4(AIFM1):c.498T>C (p.Pro166=) rs2030801937
NM_004208.4(AIFM1):c.51G>T (p.Val17=)
NM_004208.4(AIFM1):c.537G>A (p.Leu179=)
NM_004208.4(AIFM1):c.552C>T (p.Asp184=)
NM_004208.4(AIFM1):c.559G>A (p.Val187Ile)
NM_004208.4(AIFM1):c.597A>C (p.Lys199Asn) rs143670174
NM_004208.4(AIFM1):c.605+13A>G
NM_004208.4(AIFM1):c.606-12T>C
NM_004208.4(AIFM1):c.606-14T>C
NM_004208.4(AIFM1):c.606-15C>G
NM_004208.4(AIFM1):c.606-17CT[2]
NM_004208.4(AIFM1):c.606-19C>G rs2124662066
NM_004208.4(AIFM1):c.642T>C (p.Ala214=) rs113888969
NM_004208.4(AIFM1):c.648C>T (p.Asp216=)
NM_004208.4(AIFM1):c.651G>C (p.Leu217=)
NM_004208.4(AIFM1):c.696+20_696+22del
NM_004208.4(AIFM1):c.738T>C (p.Asn246=)
NM_004208.4(AIFM1):c.756C>T (p.Thr252=)
NM_004208.4(AIFM1):c.781+19G>A
NM_004208.4(AIFM1):c.781+9T>C
NM_004208.4(AIFM1):c.782-18T>C rs2030514318
NM_004208.4(AIFM1):c.819T>A (p.Ala273=)
NM_004208.4(AIFM1):c.828G>A (p.Glu276=) rs2124656376
NM_004208.4(AIFM1):c.846G>A (p.Thr282=)
NM_004208.4(AIFM1):c.870T>C (p.Phe290=) rs1603224254
NM_004208.4(AIFM1):c.954T>C (p.Ala318=) rs1603224213
NM_004208.4(AIFM1):c.960C>T (p.Gly320=)
NM_004208.4(AIFM1):c.966G>A (p.Lys322=)
NM_004208.4(AIFM1):c.967+15G>A
NM_004208.4(AIFM1):c.967+15G>T
NM_004208.4(AIFM1):c.967+9T>C
NM_004208.4(AIFM1):c.968-17C>G rs2030382384

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