ClinVar Miner

List of variants studied for Mitochondrial trifunctional protein deficiency by Illumina Laboratory Services, Illumina

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Total variants: 110
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HGVS dbSNP gnomAD frequency
NM_000183.3(HADHB):c.*136G>C rs1056471 0.88075
NM_000183.2(HADHB):c.-201G>A rs3806516 0.60985
NM_000183.2(HADHB):c.-214C>T rs72809668 0.17558
NM_000183.3(HADHB):c.825T>C (p.Val275=) rs1056389 0.17317
NM_000182.5(HADHA):c.*302G>A rs1049987 0.17222
NM_000183.3(HADHB):c.1014-14A>G rs17528590 0.17198
NM_000182.5(HADHA):c.474C>T (p.Tyr158=) rs11552518 0.16973
NM_000183.3(HADHB):c.1149+4A>T rs2303893 0.08727
NM_000183.3(HADHB):c.*486G>A rs7601689 0.04939
NM_000182.5(HADHA):c.*510A>T rs13432453 0.04522
NM_000183.3(HADHB):c.*196A>G rs7586822 0.03799
NM_000183.3(HADHB):c.*351C>G rs7575987 0.02538
NM_000182.5(HADHA):c.1392+10G>A rs60085478 0.02277
NM_000182.5(HADHA):c.1072C>A (p.Gln358Lys) rs2229420 0.02193
NM_000183.3(HADHB):c.966G>A (p.Ala322=) rs7572240 0.02064
NM_000182.5(HADHA):c.1620+11G>C rs112236946 0.01807
NM_000183.3(HADHB):c.830A>G (p.Lys277Arg) rs57969630 0.00662
NM_000183.3(HADHB):c.780C>T (p.Leu260=) rs7607527 0.00660
NM_000183.3(HADHB):c.891C>T (p.Ile297=) rs56902571 0.00660
NM_000182.5(HADHA):c.*561C>T rs115151034 0.00544
NM_000182.5(HADHA):c.*331T>C rs189483687 0.00500
NM_000182.5(HADHA):c.1981C>T (p.Leu661=) rs142348718 0.00450
NM_000182.5(HADHA):c.1690-6G>A rs111662358 0.00412
NM_000182.5(HADHA):c.68-10T>G rs144414842 0.00403
NM_000183.2(HADHB):c.-173T>C rs749979964 0.00249
NM_000182.5(HADHA):c.-1G>T rs72809666 0.00211
NM_000182.5(HADHA):c.2060T>C (p.Met687Thr) rs149632783 0.00173
NM_000183.3(HADHB):c.64+11T>C rs57709136 0.00141
NM_000183.2(HADHB):c.-185G>C rs367712851 0.00137
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.246A>G (p.Ala82=) rs151302743 0.00070
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_000183.3(HADHB):c.*52A>G rs183649494 0.00056
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.1690-14C>T rs142401180 0.00013
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_000183.3(HADHB):c.135G>A (p.Thr45=) rs574464531 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.*202G>A rs7260
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.*500G>A rs538337605
NM_000183.3(HADHB):c.-9+11G>C rs886055866
NM_000183.3(HADHB):c.1371G>A (p.Ala457=) rs72851542
NM_000183.3(HADHB):c.210-5C>A rs763169112
NM_000183.3(HADHB):c.5_7dup (p.Thr2dup) rs3839049
NM_000183.3(HADHB):c.812-5A>T rs72851534
NM_000183.3(HADHB):c.994A>G (p.Lys332Glu) rs777680722

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