ClinVar Miner

List of variants reported as likely pathogenic for inborn mitochondrial metabolism disorder by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

Included ClinVar conditions (412):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_005006.7(NDUFS1):c.1393-2A>C rs370009373 0.00007
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp) rs398123061 0.00003
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys) rs201732356 0.00003
NM_152416.4(NDUFAF6):c.420+784C>T rs749738738 0.00002
NM_000414.4(HSD17B4):c.526A>G (p.Asn176Asp) rs775766910 0.00001
NM_001002755.4(NFU1):c.545G>A (p.Arg182Gln) rs1281276965 0.00001
NM_001931.5(DLAT):c.975G>A (p.Pro325=) rs1432866316 0.00001
NM_002693.3(POLG):c.1816dup (p.Thr606fs) rs1319481399 0.00001
NM_015340.4(LARS2):c.2134C>T (p.Pro712Ser) rs764828665 0.00001
NM_025152.3(NUBPL):c.2T>C (p.Met1Thr) rs567437692 0.00001
NM_130837.3(OPA1):c.1262G>A (p.Arg421Gln) rs535885178 0.00001
NM_000126.4(ETFA):c.883-1_885del
NM_000126.4(ETFA):c.884_886del (p.Thr295del) rs2038999395
NM_000182.5(HADHA):c.1086-1_1088dup
NM_000183.3(HADHB):c.631-1G>A rs1553322031
NM_000284.4(PDHA1):c.1143_1145dup (p.Asn381_Gln382insHis)
NM_000414.4(HSD17B4):c.1604G>T (p.Cys535Phe)
NM_000414.4(HSD17B4):c.2130del (p.Phe710fs)
NM_000414.4(HSD17B4):c.2207T>A (p.Leu736His) rs1755036404
NM_000414.4(HSD17B4):c.302+3_307del
NM_000414.4(HSD17B4):c.367C>G (p.His123Asp) rs786205574
NM_000414.4(HSD17B4):c.865C>T (p.Gln289Ter)
NM_001025389.2(AMPD3):c.1815_1816del (p.Ile606fs)
NM_001033.5(RRM1):c.1142G>A (p.Arg381His)
NM_001079866.2(BCS1L):c.441C>T (p.Phe147=) rs2106324466
NM_001079866.2(BCS1L):c.712A>G (p.Ser238Gly) rs1459378570
NM_001256007.3(PNPLA8):c.1748_1749del (p.Tyr583fs)
NM_001277062.2(MFF):c.-40-841T>G
NM_001277062.2(MFF):c.-40-842dup rs747892565
NM_001277062.2(MFF):c.112C>T (p.Gln38Ter) rs397514615
NM_001278716.2(FBXL4):c.1698A>G (p.Ile566Met) rs1554215959
NM_003119.4(SPG7):c.2T>C (p.Met1Thr)
NM_003172.4(SURF1):c.657_658del (p.Asn220fs)
NM_003366.4(UQCRC2):c.547C>T (p.Arg183Trp) rs374661051
NM_003850.3(SUCLA2):c.191T>C (p.Leu64Ser) rs1950196208
NM_004046.6(ATP5F1A):c.1252G>A (p.Gly418Arg)
NM_004453.4(ETFDH):c.786G>T (p.Leu262Phe) rs1450977775
NM_005006.7(NDUFS1):c.758T>G (p.Val253Gly) rs786205666
NM_006567.5(FARS2):c.431A>G (p.Tyr144Cys) rs397514610
NM_007208.4(MRPL3):c.93-2A>C
NM_015713.5(RRM2B):c.184del (p.Ser62fs)
NM_015713.5(RRM2B):c.94G>T (p.Glu32Ter)
NM_016360.4(TACO1):c.255_258del (p.Leu84_Cys85insTer)
NM_017775.4(TTC19):c.184+1G>A
NM_017775.4(TTC19):c.93dup (p.Leu32fs)
NM_017866.6(TMEM70):c.578_579del (p.Thr193fs) rs777501387
NM_017909.4(RMND1):c.1349G>C (p.Ter450Ser) rs115079861
NM_017952.6(PTCD3):c.1979+1G>A
NM_018238.4(AGK):c.424-3C>G rs766413410
NM_018292.5(QRSL1):c.398G>T (p.Gly133Val) rs1562168768
NM_020247.5(COQ8A):c.1573-1dup
NM_020247.5(COQ8A):c.815G>C (p.Gly272Ala)
NM_024996.7(GFM1):c.1764+2T>C rs1725442904
NM_025152.3(NUBPL):c.526C>T (p.Gln176Ter) rs1555338209
NM_025215.6(PUS1):c.462_463dup (p.Val155fs)
NM_032861.4(SERAC1):c.548G>A (p.Arg183Gln)
NM_033109.5(PNPT1):c.1284+4A>C
NM_052865.4(MGME1):c.589_590del (p.Arg196_Asp197insTer)
NM_078470.6(COX15):c.750+1G>A
NM_080916.3(DGUOK):c.763_766dup (p.Phe256Ter) rs763706988
NM_133259.4(LRPPRC):c.2106del (p.Ala703fs)
NM_139242.4(MTFMT):c.1116del (p.Pro373fs) rs863224897
NM_178526.5(SLC25A42):c.871A>G (p.Asn291Asp) rs864321624

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