ClinVar Miner

List of variants studied for inborn mitochondrial metabolism disorder by MGZ Medical Genetics Center

Included ClinVar conditions (407):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 100
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HGVS dbSNP gnomAD frequency
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs11394094 0.00159
NM_032317.3(DNAJC30):c.152A>G (p.Tyr51Cys) rs61732167 0.00112
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00103
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_005138.3(SCO2):c.16_17insAGCATGCAGCAGTGACTCA (p.Arg6fs) rs749838192 0.00091
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095 0.00068
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_001377299.1(NDUFS2):c.1138C>G (p.His380Asp) rs144411579 0.00055
NM_003172.4(SURF1):c.311_312insA (p.Leu105fs) rs764928653 0.00036
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter) rs121918358 0.00014
NM_002437.5(MPV17):c.191C>G (p.Pro64Arg) rs375401970 0.00008
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg) rs121913037 0.00007
NM_000183.3(HADHB):c.712C>T (p.Arg238Trp) rs764006338 0.00006
NM_002437.5(MPV17):c.293C>T (p.Pro98Leu) rs267607258 0.00006
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr) rs752623413 0.00006
NM_002693.3(POLG):c.428C>T (p.Ala143Val) rs796052899 0.00004
NM_003119.4(SPG7):c.656T>C (p.Ile219Thr) rs114255772 0.00004
NM_002693.3(POLG):c.895A>G (p.Met299Val) rs140262282 0.00003
NM_004453.4(ETFDH):c.1366C>T (p.Pro456Ser) rs751821289 0.00003
NM_005002.5(NDUFA9):c.223C>T (p.Arg75Cys) rs767462328 0.00003
NM_002693.3(POLG):c.3218C>T (p.Pro1073Leu) rs267606959 0.00002
NM_002693.3(POLG):c.1943C>G (p.Pro648Arg) rs796052906 0.00001
NM_002693.3(POLG):c.88G>A (p.Val30Ile) rs1321405180 0.00001
NM_003119.4(SPG7):c.1408C>T (p.Arg470Ter) rs748555510 0.00001
NM_003119.4(SPG7):c.1972G>A (p.Ala658Thr) rs2058661391 0.00001
NM_003477.3(PDHX):c.1336C>T (p.Arg446Ter) rs1135402725 0.00001
NM_004553.6(NDUFS6):c.309+5G>A rs763535523 0.00001
NM_017547.4(FOXRED1):c.406C>T (p.Arg136Trp) rs373075574 0.00001
NM_020442.6(VARS2):c.1010C>T (p.Thr337Ile) rs587777585 0.00001
NC_012920.1(MT-ATP6):m.8993T>G rs199476133
NC_012920.1(MT-ATP6):m.9185T>C rs199476138
NC_012920.1(MT-CO2):m.8156del
NC_012920.1(MT-CO3):m.9247G>C
NC_012920.1(MT-CO3):m.9700T>C rs1603222437
NC_012920.1(MT-ND4):m.11778G>A rs199476112
NC_012920.1(MT-ND5):m.13289G>A
NC_012920.1(MT-ND5):m.13513G>A rs267606897
NC_012920.1(MT-ND5):m.13912C>T
NC_012920.1(MT-ND5):m.14021T>C
NC_012920.1(MT-ND6):m.14484T>C rs199476104
NC_012920.1(MT-TK):m.8319A>G rs1603221401
NC_012920.1(MT-TK):m.8344A>G rs118192098
NC_012920.1(MT-TL1):m.3243A>G rs199474657
NC_012920.1(MT-TL1):m.3274A>G rs199474666
NM_000126.4(ETFA):c.186+1G>A rs2141543695
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser) rs1555933963
NM_000284.4(PDHA1):c.905G>A (p.Arg302His) rs1064794149
NM_001080449.3(DNA2):c.876C>A (p.Tyr292Ter)
NM_001377299.1(NDUFS2):c.860G>A (p.Gly287Asp)
NM_001953.5(TYMP):c.752T>C (p.Leu251Pro)
NM_001985.3(ETFB):c.605AGA[3] (p.Lys205del) rs767519060
NM_002496.4(NDUFS8):c.499G>A (p.Glu167Lys)
NM_002693.3(POLG):c.3482+2T>C rs1466226819
NM_002693.3(POLG):c.3483-6T>C
NM_003119.4(SPG7):c.1048C>G (p.Pro350Ala) rs199789849
NM_003119.4(SPG7):c.2115_2131del (p.Leu706fs) rs748255454
NM_003119.4(SPG7):c.2161A>G (p.Asn721Asp) rs2152412388
NM_003119.4(SPG7):c.2350C>T (p.Pro784Ser)
NM_003119.4(SPG7):c.286+1G>T rs1452259575
NM_003119.4(SPG7):c.412_443del (p.Tyr138fs)
NM_003172.4(SURF1):c.106G>C (p.Gly36Arg) rs1836579970
NM_003321.5(TUFM):c.502T>A (p.Leu168Ile)
NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro) rs387907170
NM_004453.4(ETFDH):c.1465A>G (p.Lys489Glu)
NM_004453.4(ETFDH):c.784T>G (p.Leu262Val)
NM_004614.5(TK2):c.124+3A>G
NM_005138.3(SCO2):c.250A>G (p.Arg84Gly)
NM_005138.3(SCO2):c.358C>T (p.Arg120Trp)
NM_006567.5(FARS2):c.821_824del (p.Ser274fs)
NM_006796.3(AFG3L2):c.1616C>G (p.Ser539Cys)
NM_015340.4(LARS2):c.2072G>A (p.Trp691Ter)
NM_015340.4(LARS2):c.2608G>T (p.Val870Phe)
NM_015713.5(RRM2B):c.320T>C (p.Leu107Ser)
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys) rs1163170578
NM_016589.4(TIMMDC1):c.596+1del
NM_016589.4(TIMMDC1):c.751G>T (p.Glu251Ter)
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs) rs398124308
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup) rs753112330
NM_020320.5(RARS2):c.1A>T (p.Met1Leu) rs774923951
NM_020442.6(VARS2):c.1583G>A (p.Trp528Ter)
NM_020442.6(VARS2):c.502C>T (p.Arg168Cys)
NM_021830.5(TWNK):c.1001G>A (p.Arg334Gln) rs28937887
NM_025136.4(OPA3):c.431C>G (p.Pro144Arg)
NM_080916.3(DGUOK):c.707+3_707+6del
NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln) rs121908375
NM_130837.3(OPA1):c.1073G>A (p.Ser358Asn)
NM_130837.3(OPA1):c.112C>T (p.Arg38Ter) rs761460379
NM_130837.3(OPA1):c.114_115insG (p.Ser39fs)
NM_130837.3(OPA1):c.1852C>T (p.Gln618Ter)
NM_130837.3(OPA1):c.1935+1G>C rs1711518217
NM_130837.3(OPA1):c.2263_2268del (p.Leu755_Lys756del) rs755591067
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_130837.3(OPA1):c.2995G>T (p.Glu999Ter)
NM_130837.3(OPA1):c.437A>G (p.Tyr146Cys)
NM_130837.3(OPA1):c.70dup (p.Ile24fs)
NM_130837.3(OPA1):c.800_801del (p.Lys267fs) rs794727804
NM_130837.3(OPA1):c.880G>T (p.Glu294Ter)

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