List of variants in gene ETFA reported as benign by GeneDx

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

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000126.4(ETFA):c.452-175G>A	rs2456069	0.97842
NM_000126.4(ETFA):c.*216A>T	rs1803550	0.97799
NM_000126.4(ETFA):c.352-261G>A	rs2456068	0.97704
NM_000126.4(ETFA):c.40-269A>G	rs2456065	0.76521
NM_000126.4(ETFA):c.186+155G>A	rs3759853	0.40870
NM_000126.4(ETFA):c.39+80del	rs3215142	0.23633
NM_000126.3(ETFA):c.-199G>A	rs62027052	0.22755
NM_000126.4(ETFA):c.39+12C>G	rs62027051	0.14273
NM_000126.4(ETFA):c.452-268C>T	rs10519134	0.07775
NM_000126.4(ETFA):c.817-32A>G	rs62030234	0.07095
NM_000126.4(ETFA):c.512C>T (p.Thr171Ile)	rs1801591	0.06414
NM_000126.4(ETFA):c.40-244C>T	rs7173941	0.04754
NM_000126.4(ETFA):c.882+54G>T	rs76403342	0.04273
NM_000126.4(ETFA):c.*268A>G	rs80292319	0.03836
NM_000126.4(ETFA):c.963+296A>G	rs145400891	0.03698
NM_000126.4(ETFA):c.734-20C>A	rs2460160	0.00725
NM_000126.4(ETFA):c.351+17T>C	rs138629105	0.00467
NM_000126.4(ETFA):c.562+11A>T	rs143834701	0.00287
NM_000126.4(ETFA):c.186+7A>G	rs184587113	0.00231
NM_000126.4(ETFA):c.186+16G>T	rs146932936	0.00228
NM_000126.4(ETFA):c.351+83dup	rs3215000
NM_000126.4(ETFA):c.352-241G>A	rs8039063
NM_000126.4(ETFA):c.40-269_40-266del	rs199862952
NM_000126.4(ETFA):c.40-50del	rs59517673
NM_000126.4(ETFA):c.40-66_40-65dup	rs59517673
NM_000126.4(ETFA):c.40-66dup	rs59517673
NM_000126.4(ETFA):c.883-76_883-75insGGTAA	rs200152795
NM_000126.4(ETFA):c.883-77_883-76insGTAAG	rs11281932
NM_000126.4(ETFA):c.964-266_964-263dup	rs373144812
NM_000126.4(ETFA):c.964-266_964-264dup	rs373144812
NM_000126.4(ETFA):c.964-266_964-265dup	rs373144812
NM_000126.4(ETFA):c.964-266dup	rs373144812

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.