ClinVar Miner

List of variants in gene GAREM2, HADHA studied for Mitochondrial trifunctional protein deficiency

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Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_000182.5(HADHA):c.*302G>A rs1049987 0.17222
NM_000182.5(HADHA):c.*510A>T rs13432453 0.04522
NM_000182.5(HADHA):c.1392+10G>A rs60085478 0.02277
NM_000182.5(HADHA):c.1620+11G>C rs112236946 0.01807
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.1528G>C (p.Glu510Gln) rs137852769 0.00182
NM_000182.5(HADHA):c.2060T>C (p.Met687Thr) rs149632783 0.00173
NM_000182.5(HADHA):c.*355C>T rs539549041 0.00071
NM_000182.5(HADHA):c.1212G>C (p.Val404=) rs116396996 0.00058
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.1690-13G>A rs368557552 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.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_000182.5(HADHA):c.*403C>T rs146210168 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.*182C>T rs1013194171 0.00003
NM_000182.5(HADHA):c.1793_1794del (p.His598fs) rs769580842 0.00003
NM_000182.5(HADHA):c.1418C>A (p.Ala473Asp) rs772166712 0.00002
NM_000182.5(HADHA):c.1678C>T (p.Arg560Ter) rs137852771 0.00002
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.*405C>T rs886055859 0.00001
NM_000182.5(HADHA):c.*437T>A rs779402635 0.00001
NM_000182.5(HADHA):c.1132C>T (p.Gln378Ter) rs137852770 0.00001
NM_000182.5(HADHA):c.1195C>T (p.Arg399Ter) rs1243779049 0.00001
NM_000182.5(HADHA):c.1829G>A (p.Arg610Gln) rs373966336 0.00001
NM_000182.5(HADHA):c.2037A>G (p.Thr679=) rs1231960929 0.00001
NM_000182.5(HADHA):c.2107G>A (p.Gly703Arg) rs200438844 0.00001
NM_000182.5(HADHA):c.2192A>T (p.Asp731Val) rs775428463 0.00001
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.1689+2T>G rs1574602991
NM_000182.5(HADHA):c.1811del (p.Gly604fs) rs747985669
NM_000182.5(HADHA):c.1981_1999del (p.Leu661fs) rs749848370
NM_000182.5(HADHA):c.2131C>T (p.Pro711Ser) rs138966725
NM_000182.5(HADHA):c.2132dup (p.Pro712fs) rs1574600309
NM_000182.5(HADHA):c.2134_2138dup (p.Gly715fs) rs1669501514
NM_000182.5(HADHA):c.2225_2228dup (p.Phe744fs) rs868816467

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