List of variants in gene LOC130058735, TUFM studied for combined oxidative phosphorylation deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_003321.5(TUFM):c.-55T>C	rs7187776	0.41063
NM_003321.4(TUFM):c.-132G>A	rs112029765	0.02019
NM_003321.4(TUFM):c.-128G>C	rs555362028	0.00129
NM_003321.4(TUFM):c.-81G>C	rs573249163	0.00048
NM_003321.5(TUFM):c.6C>T (p.Thr2=)	rs751421456	0.00015
NM_003321.5(TUFM):c.-44G>T	rs781545296	0.00010
NM_003321.5(TUFM):c.35C>G (p.Ala12Gly)	rs559685074	0.00004
NM_003321.5(TUFM):c.1A>G (p.Met1Val)	rs759426337	0.00002
NM_003321.5(TUFM):c.-37C>T	rs886051877	0.00001
NM_003321.5(TUFM):c.12G>T (p.Met4Ile)	rs766371467	0.00001
NM_003321.5(TUFM):c.-57TCT[2]	rs147419027
NM_003321.5(TUFM):c.-61C>T	rs570963386

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