ClinVar Miner

List of variants reported as uncertain significance for Mitochondrial complex I deficiency, nuclear type 1 by Baylor Genetics

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_001377299.1(NDUFS2):c.1355-4C>G rs147235167 0.00265
NM_007103.4(NDUFV1):c.1213C>T (p.Arg405Trp) rs145602077 0.00031
NM_005006.7(NDUFS1):c.826C>T (p.Arg276Cys) rs142941808 0.00024
NM_199069.2(NDUFAF3):c.386A>G (p.Gln129Arg) rs544277179 0.00024
NM_199069.2(NDUFAF3):c.109G>A (p.Ala37Thr) rs527954570 0.00014
NM_007103.4(NDUFV1):c.800G>A (p.Arg267Lys) rs141400889 0.00010
NM_007103.4(NDUFV1):c.1378C>T (p.Arg460Trp) rs372047256 0.00009
NM_007103.4(NDUFV1):c.1327C>T (p.Arg443Trp) rs778206888 0.00006
NM_175614.5(NDUFA11):c.205G>A (p.Val69Met) rs774174896 0.00006
NM_007103.4(NDUFV1):c.166T>C (p.Ser56Pro) rs201727685 0.00005
NM_007103.4(NDUFV1):c.1198G>A (p.Val400Met) rs774750411 0.00004
NM_007103.4(NDUFV1):c.119G>A (p.Arg40Gln) rs141502688 0.00004
NM_018480.7(TMEM126B):c.589A>G (p.Met197Val) rs181963507 0.00004
NM_016589.4(TIMMDC1):c.578T>C (p.Ile193Thr) rs368184254 0.00003
NM_005006.7(NDUFS1):c.476C>T (p.Ala159Val) rs764520533 0.00002
NM_016589.4(TIMMDC1):c.745A>G (p.Lys249Glu) rs779953541 0.00002
NM_001377299.1(NDUFS2):c.158A>G (p.Tyr53Cys) rs774162709 0.00001
NM_005006.7(NDUFS1):c.1624C>T (p.Pro542Ser) rs762228459 0.00001
NM_005006.7(NDUFS1):c.2092+9T>C rs1173129542 0.00001
NM_005006.7(NDUFS1):c.280A>G (p.Met94Val) rs763697779 0.00001
NM_007103.4(NDUFV1):c.343G>A (p.Val115Met) rs751551838 0.00001
NM_007103.4(NDUFV1):c.871G>A (p.Glu291Lys) rs1017020344 0.00001
NM_016589.4(TIMMDC1):c.175C>T (p.Arg59Trp) rs774619141 0.00001
NM_016589.4(TIMMDC1):c.674G>A (p.Arg225Gln) rs761981569 0.00001
NM_001377299.1(NDUFS2):c.628-17del rs775653766
NM_002495.4(NDUFS4):c.3G>A (p.Met1Ile)
NM_002495.4(NDUFS4):c.506G>C (p.Arg169Thr) rs768080528
NM_005006.7(NDUFS1):c.1195GTT[1] (p.Val400del) rs1559055100
NM_007103.4(NDUFV1):c.166T>A (p.Ser56Thr) rs201727685
NM_007103.4(NDUFV1):c.499T>G (p.Ser167Ala) rs773368756
NM_014165.4(NDUFAF4):c.268C>T (p.Pro90Ser) rs1775313687
NM_021074.5(NDUFV2):c.29G>T (p.Arg10Leu) rs1035730836
NM_024120.5(NDUFAF5):c.1029dup (p.Ser344fs) rs778575439
NM_024120.5(NDUFAF5):c.135T>A (p.Asn45Lys) rs1980757406
NM_024120.5(NDUFAF5):c.176C>A (p.Ala59Glu) rs1980770637

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