List of variants in gene combination GAREM2, HADHA reported as uncertain significance for Mitochondrial trifunctional protein deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 32

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HGVS	dbSNP	gnomAD frequency
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.*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.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.1829G>A (p.Arg610Gln)	rs373966336	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.*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.2131C>T (p.Pro711Ser)	rs138966725

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