List of variants in gene ETFA reported as pathogenic for cardiomyopathy

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: 38

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HGVS	dbSNP	gnomAD frequency
NM_000126.4(ETFA):c.797C>T (p.Thr266Met)	rs119458970	0.00008
NM_000126.4(ETFA):c.52C>T (p.Arg18Ter)	rs754202690	0.00004
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter)	rs769976586	0.00004
NM_000126.4(ETFA):c.346G>A (p.Gly116Arg)	rs119458971	0.00003
NM_000126.4(ETFA):c.625C>T (p.Arg209Ter)	rs199763682	0.00002
NM_000126.4(ETFA):c.470T>G (p.Val157Gly)	rs119458969	0.00001
NM_000126.4(ETFA):c.625del (p.Arg209fs)	rs1209473816	0.00001
NC_000015.10:g.(?_76311340)_(76311398_?)del
NC_000015.9:g.(?_76508890)_(76603739_?)del
NC_000015.9:g.(?_76580177)_(76585051_?)del
NM_000126.4(ETFA):c.27_30del	rs2142101078
NM_000126.4(ETFA):c.15_25dup (p.Gln9fs)	rs1384386872
NM_000126.4(ETFA):c.177del (p.Lys59fs)
NM_000126.4(ETFA):c.203_204del (p.Leu67_Cys68insTer)
NM_000126.4(ETFA):c.284dup (p.Leu95fs)
NM_000126.4(ETFA):c.285del (p.Ile96fs)	rs2039775781
NM_000126.4(ETFA):c.298_325del (p.Gln100fs)
NM_000126.4(ETFA):c.311_312del (p.Asn104fs)
NM_000126.4(ETFA):c.319_322del (p.His107fs)	rs866218814
NM_000126.4(ETFA):c.321_322del (p.Ile108fs)	rs866218814
NM_000126.4(ETFA):c.322_323del (p.Ile108fs)
NM_000126.4(ETFA):c.369dup (p.Ala124fs)
NM_000126.4(ETFA):c.37dup (p.Ala13fs)
NM_000126.4(ETFA):c.427dup (p.Thr143fs)	rs2039717357
NM_000126.4(ETFA):c.44C>A (p.Ser15Ter)	rs1047426224
NM_000126.4(ETFA):c.461dup (p.Cys155fs)
NM_000126.4(ETFA):c.478del (p.Asp160fs)	rs2039705645
NM_000126.4(ETFA):c.495_496del (p.Ser167fs)	rs1298299792
NM_000126.4(ETFA):c.556G>T (p.Glu186Ter)
NM_000126.4(ETFA):c.560del (p.Lys187fs)
NM_000126.4(ETFA):c.593_594del (p.Glu198fs)
NM_000126.4(ETFA):c.597G>A (p.Trp199Ter)
NM_000126.4(ETFA):c.624del (p.Arg209fs)	rs1596218695
NM_000126.4(ETFA):c.693dup (p.Lys232Ter)	rs754050501
NM_000126.4(ETFA):c.793C>T (p.Gln265Ter)	rs757409121
NM_000126.4(ETFA):c.806TAG[1] (p.Val270del)	rs779140971
NM_000126.4(ETFA):c.826_833dup (p.Gly279fs)
NM_000126.4(ETFA):c.963+1del	rs746488455

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