ClinVar Miner

List of variants in gene ETFA reported as likely pathogenic for cardiomyopathy

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 47
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HGVS dbSNP gnomAD frequency
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.2T>C (p.Met1Thr) rs727503918 0.00001
NM_000126.4(ETFA):c.470T>G (p.Val157Gly) rs119458969 0.00001
NM_000126.4(ETFA):c.625del (p.Arg209fs) rs1209473816 0.00001
NC_000015.9:g.(?_76566743)_(76588088_?)del
NM_000126.4(ETFA):c.186+1G>A rs2141543695
NM_000126.4(ETFA):c.193C>T (p.Gln65Ter)
NM_000126.4(ETFA):c.203_204del (p.Leu67_Cys68insTer)
NM_000126.4(ETFA):c.226del (p.Val76fs)
NM_000126.4(ETFA):c.238C>T (p.Gln80Ter)
NM_000126.4(ETFA):c.266del (p.Pro89fs)
NM_000126.4(ETFA):c.268+1G>A
NM_000126.4(ETFA):c.268+1G>C
NM_000126.4(ETFA):c.269-2A>G
NM_000126.4(ETFA):c.284dup (p.Leu95fs)
NM_000126.4(ETFA):c.298_325del (p.Gln100fs)
NM_000126.4(ETFA):c.319_322del (p.His107fs) rs866218814
NM_000126.4(ETFA):c.351+1G>A
NM_000126.4(ETFA):c.351+2T>C
NM_000126.4(ETFA):c.352-1G>A
NM_000126.4(ETFA):c.352-2A>G
NM_000126.4(ETFA):c.365G>A (p.Arg122Lys)
NM_000126.4(ETFA):c.371_372dup (p.Ala125fs)
NM_000126.4(ETFA):c.375_379delinsAAA (p.Lys126fs)
NM_000126.4(ETFA):c.39+1G>A
NM_000126.4(ETFA):c.39+1G>T
NM_000126.4(ETFA):c.451+1G>A
NM_000126.4(ETFA):c.452-2A>G rs2141531787
NM_000126.4(ETFA):c.495_496del (p.Ser167fs) rs1298299792
NM_000126.4(ETFA):c.516del (p.Phe173fs)
NM_000126.4(ETFA):c.632_640del (p.Glu211_Thr213del)
NM_000126.4(ETFA):c.650_653dup (p.Val219fs)
NM_000126.4(ETFA):c.658_664+3del
NM_000126.4(ETFA):c.664+1G>A rs2039698086
NM_000126.4(ETFA):c.664+2dup
NM_000126.4(ETFA):c.665-1G>A
NM_000126.4(ETFA):c.689dup (p.Asn230fs)
NM_000126.4(ETFA):c.734-1_744del
NM_000126.4(ETFA):c.734-2A>G
NM_000126.4(ETFA):c.7C>T (p.Arg3Ter) rs1475984278
NM_000126.4(ETFA):c.806TAG[1] (p.Val270del) rs779140971
NM_000126.4(ETFA):c.817-2A>G
NM_000126.4(ETFA):c.826_833dup (p.Gly279fs)
NM_000126.4(ETFA):c.884_886del (p.Thr295del) rs2038999395
NM_000126.4(ETFA):c.963+1del rs746488455

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