ClinVar Miner

List of variants reported as uncertain significance for Mitochondrial trifunctional protein deficiency by Illumina Laboratory Services, Illumina

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Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_000183.2(HADHB):c.-173T>C rs749979964 0.00249
NM_000183.2(HADHB):c.-124C>G rs575302805 0.00095
NM_000183.3(HADHB):c.1206C>T (p.Tyr402=) rs146538551 0.00086
NM_000182.5(HADHA):c.*355C>T rs539549041 0.00071
NM_000183.3(HADHB):c.900C>T (p.Tyr300=) rs144093705 0.00065
NM_000182.5(HADHA):c.1212G>C (p.Val404=) rs116396996 0.00058
NM_000182.5(HADHA):c.652G>C (p.Val218Leu) rs71441018 0.00050
NM_000183.3(HADHB):c.560A>G (p.Asn187Ser) rs138696018 0.00036
NM_000182.5(HADHA):c.2113G>A (p.Val705Ile) rs146406360 0.00034
NM_000182.5(HADHA):c.1689+11C>T rs367640259 0.00031
NM_000182.5(HADHA):c.79C>T (p.Arg27Cys) rs143832445 0.00031
NM_000182.5(HADHA):c.1690-13G>A rs368557552 0.00028
NM_000183.3(HADHB):c.*43C>T rs192988436 0.00028
NM_000183.3(HADHB):c.640G>A (p.Val214Ile) rs149693931 0.00028
NM_000182.5(HADHA):c.*586G>A rs749568626 0.00021
NM_000182.5(HADHA):c.2175C>T (p.Gly725=) rs375399631 0.00021
NM_000182.5(HADHA):c.325G>A (p.Ala109Thr) rs368388214 0.00016
NM_000182.5(HADHA):c.*239C>T rs1001518961 0.00010
NM_000182.5(HADHA):c.1284C>T (p.Asn428=) rs199535840 0.00009
NM_000182.5(HADHA):c.1655C>T (p.Ala552Val) rs369588406 0.00009
NM_000182.5(HADHA):c.2147-8C>G rs368976628 0.00009
NM_000182.5(HADHA):c.*110G>A rs952439873 0.00008
NM_000183.3(HADHB):c.272C>T (p.Thr91Ile) rs145712438 0.00008
NM_000182.5(HADHA):c.*403C>T rs146210168 0.00006
NM_000183.2(HADHB):c.-176G>T rs574318006 0.00006
NM_000183.3(HADHB):c.397A>G (p.Thr133Ala) rs371159065 0.00006
NM_000183.3(HADHB):c.712C>T (p.Arg238Trp) rs764006338 0.00006
NM_000182.5(HADHA):c.1947T>A (p.Asn649Lys) rs777153382 0.00005
NM_000182.5(HADHA):c.1788G>A (p.Ala596=) rs190409957 0.00004
NM_000182.5(HADHA):c.585T>A (p.Pro195=) rs202034466 0.00004
NM_000182.5(HADHA):c.858G>A (p.Val286=) rs373864418 0.00004
NM_000183.3(HADHB):c.64+15A>T rs1018820638 0.00004
NM_000182.5(HADHA):c.*182C>T rs1013194171 0.00003
NM_000182.5(HADHA):c.1794T>C (p.His598=) rs149021400 0.00002
NM_000182.5(HADHA):c.1912A>G (p.Ile638Val) rs545660610 0.00002
NM_000182.5(HADHA):c.560G>C (p.Arg187Thr) rs146667859 0.00002
NM_000183.3(HADHB):c.589T>C (p.Ser197Pro) rs142475516 0.00002
NM_000182.5(HADHA):c.*405C>T rs886055859 0.00001
NM_000182.5(HADHA):c.*437T>A rs779402635 0.00001
NM_000182.5(HADHA):c.1829G>A (p.Arg610Gln) rs373966336 0.00001
NM_000182.5(HADHA):c.189A>G (p.Thr63=) rs748187062 0.00001
NM_000182.5(HADHA):c.2037A>G (p.Thr679=) rs1231960929 0.00001
NM_000182.5(HADHA):c.2192A>T (p.Asp731Val) rs775428463 0.00001
NM_000182.5(HADHA):c.27C>T (p.Ile9=) rs1453533016 0.00001
NM_000182.5(HADHA):c.869T>C (p.Val290Ala) rs759968341 0.00001
NM_000183.2(HADHB):c.-202G>A rs886055865 0.00001
NM_000183.2(HADHB):c.-235delT rs886055864 0.00001
NM_000183.3(HADHB):c.-53C>T rs1187378058 0.00001
NM_000183.3(HADHB):c.1148C>T (p.Ser383Leu) rs144711755 0.00001
NM_000183.3(HADHB):c.1336C>T (p.Arg446Trp) rs781574694 0.00001
NM_000183.3(HADHB):c.1343A>G (p.Glu448Gly) rs971767907 0.00001
NM_000183.3(HADHB):c.443-10T>C rs371257973 0.00001
NM_000183.3(HADHB):c.635C>T (p.Pro212Leu) rs758393205 0.00001
NM_000182.4(HADHA):c.-37T>C rs528818728
NM_000182.5(HADHA):c.*103A>T rs1360388686
NM_000182.5(HADHA):c.*373GT[1] rs886055861
NM_000182.5(HADHA):c.*389C>G rs886055860
NM_000182.5(HADHA):c.*458TG[3] rs146500488
NM_000182.5(HADHA):c.*46G>A rs367911534
NM_000182.5(HADHA):c.*489G>A rs886055857
NM_000182.5(HADHA):c.*494G>T rs886055856
NM_000182.5(HADHA):c.*59C>T rs1669485295
NM_000182.5(HADHA):c.16G>C (p.Ala6Pro) rs150565988
NM_000182.5(HADHA):c.454-13C>T rs367636661
NM_000182.5(HADHA):c.676+6T>C rs886055863
NM_000182.5(HADHA):c.932G>C (p.Gly311Ala) rs886055862
NM_000183.3(HADHB):c.*241T>G rs886055867
NM_000183.3(HADHB):c.*244T>G rs886055868
NM_000183.3(HADHB):c.*268G>A rs886055869
NM_000183.3(HADHB):c.*380A>G rs886055870
NM_000183.3(HADHB):c.-9+11G>C rs886055866
NM_000183.3(HADHB):c.210-5C>A rs763169112
NM_000183.3(HADHB):c.994A>G (p.Lys332Glu) rs777680722

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