ClinVar Miner

List of variants reported as likely benign for mitochondrial complex deficiency by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (92):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_003172.4(SURF1):c.573C>G (p.Thr191=) rs28715079 0.05492
NM_017775.4(TTC19):c.*226T>C rs73981412 0.01995
NM_001079866.2(BCS1L):c.1007+16G>A rs115594405 0.01345
NM_001370595.2(COA8):c.351A>G (p.Leu117=) rs71417867 0.01287
NM_001861.6(COX4I1):c.228T>C (p.Asp76=) rs4885 0.01264
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316 0.00694
NM_004544.4(NDUFA10):c.712G>A (p.Glu238Lys) rs35462421 0.00570
NM_145691.4(ATPAF2):c.511G>A (p.Val171Met) rs62073570 0.00522
NM_024120.5(NDUFAF5):c.449A>G (p.Asn150Ser) rs148341631 0.00406
NM_152416.4(NDUFAF6):c.838G>A (p.Val280Ile) rs61743028 0.00274
NM_003366.4(UQCRC2):c.953A>C (p.Gln318Pro) rs146974535 0.00264
NM_032340.4(UQCC2):c.321G>A (p.Met107Ile) rs34770331 0.00258
NM_005005.3(NDUFB9):c.24C>T (p.Pro8=) rs147044660 0.00254
NM_017866.6(TMEM70):c.211-6C>T rs113669789 0.00230
NM_152416.4(NDUFAF6):c.83G>C (p.Gly28Ala) rs201223057 0.00210
NM_001916.5(CYC1):c.873+7G>A rs200281879 0.00202
NM_152416.4(NDUFAF6):c.663A>G (p.Pro221=) rs193102273 0.00182
NM_024120.5(NDUFAF5):c.1029A>G (p.Lys343=) rs146052819 0.00106
NM_001863.5(COX6B1):c.107-16A>G rs187740487 0.00049
NM_001863.5(COX6B1):c.243G>A (p.Thr81=) rs141958404 0.00039
NM_001303.4(COX10):c.535T>C (p.Leu179=) rs143593847 0.00038
NM_032901.4(COX14):c.-8-14A>G rs200753288 0.00037
NM_004074.3(COX8A):c.114+17G>A rs373910843 0.00024
NM_004074.3(COX8A):c.174C>A (p.Ile58=) rs11550240 0.00023
NM_004074.3(COX8A):c.93G>T (p.Pro31=) rs528113495 0.00023
NM_032340.4(UQCC2):c.75G>C (p.Arg25=) rs200426793 0.00019
NM_004589.4(SCO1):c.702C>T (p.Val234=) rs199687831 0.00015
NM_004589.4(SCO1):c.753C>T (p.Asp251=) rs151112594 0.00015
NM_001370595.2(COA8):c.123+12C>T rs767933232 0.00013
NM_016360.4(TACO1):c.873C>T (p.His291=) rs370007551 0.00013
NM_001079866.2(BCS1L):c.702C>T (p.Cys234=) rs140405116 0.00012
NM_001303.4(COX10):c.48C>T (p.Cys16=) rs748889500 0.00010
NM_001370595.2(COA8):c.123+6C>T rs2274266 0.00006
NM_016360.4(TACO1):c.327A>G (p.Leu109=) rs149794197 0.00006
NM_016360.4(TACO1):c.819G>A (p.Leu273=) rs776813717 0.00006
NM_032901.4(COX14):c.150A>G (p.Glu50=) rs372336241 0.00006
NM_001863.5(COX6B1):c.-11-8G>A rs200312775 0.00005
NM_001079866.2(BCS1L):c.627C>T (p.Ile209=) rs374582626 0.00004
NM_016360.4(TACO1):c.66C>T (p.Pro22=) rs1008008624 0.00004
NM_001303.4(COX10):c.1185C>T (p.Leu395=) rs772255579 0.00003
NM_001370595.2(COA8):c.129A>C (p.Ser43=) rs143925033 0.00003
NM_001377299.1(NDUFS2):c.777G>A (p.Glu259=) rs763804955 0.00003
NM_017866.6(TMEM70):c.211-11T>C rs111260030 0.00003
NM_198076.6(COX20):c.222-3A>C rs200065889 0.00003
NM_001303.4(COX10):c.695+11G>A rs201826759 0.00002
NM_001370595.2(COA8):c.81T>C (p.Ala27=) rs1268847789 0.00002
NM_004589.4(SCO1):c.744C>T (p.Gly248=) rs768270136 0.00002
NM_001079866.2(BCS1L):c.348A>G (p.Glu116=) rs1285254792 0.00001
NM_001303.4(COX10):c.561C>T (p.Pro187=) rs371712806 0.00001
NM_016360.4(TACO1):c.27A>G (p.Leu9=) rs1437447929 0.00001
NM_024407.5(NDUFS7):c.54-19G>A rs562814009 0.00001
NM_001079866.2(BCS1L):c.460+11del rs756708393
NM_001171155.2(PET100):c.139-11_139-9del rs748611501
NM_001370595.2(COA8):c.123+10G>A rs751821020
NM_001370595.2(COA8):c.123+10G>C rs751821020
NM_004589.4(SCO1):c.656-20C>G rs375940362
NM_005005.3(NDUFB9):c.-51A>G rs371001929
NM_005006.7(NDUFS1):c.154-13_154-9del rs568965659
NM_005006.7(NDUFS1):c.154-9del rs568965659
NM_198076.6(COX20):c.115T>C (p.Leu39=) rs1573315547
NM_198076.6(COX20):c.24T>C (p.Gly8=) rs915488593
NM_198076.6(COX20):c.7G>T (p.Ala3Ser) rs201152357

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