List of variants in gene ETFB reported as uncertain significance for cardiovascular disorder

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: 82

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HGVS	dbSNP	gnomAD frequency
NM_001985.3(ETFB):c.709G>A (p.Val237Ile)	rs149129214	0.00027
NM_001985.3(ETFB):c.278C>T (p.Pro93Leu)	rs139519507	0.00026
NM_001985.3(ETFB):c.541G>A (p.Val181Met)	rs148443220	0.00022
NM_001985.3(ETFB):c.227G>A (p.Arg76His)	rs148567433	0.00021
NM_001985.3(ETFB):c.577G>A (p.Ala193Thr)	rs200186078	0.00016
NM_001985.3(ETFB):c.40A>C (p.Ile14Leu)	rs148261223	0.00011
NM_001985.3(ETFB):c.761G>A (p.Arg254Gln)	rs145173884	0.00007
NM_001985.3(ETFB):c.118C>A (p.Pro40Thr)	rs772322071	0.00006
NM_001985.3(ETFB):c.184A>G (p.Ile62Val)	rs199705168	0.00006
NM_001985.3(ETFB):c.706G>A (p.Gly236Ser)	rs375326450	0.00006
NM_001985.3(ETFB):c.133G>A (p.Ala45Thr)	rs151108898	0.00004
NM_001985.3(ETFB):c.257G>C (p.Gly86Ala)	rs143568332	0.00004
NM_001985.3(ETFB):c.82G>A (p.Gly28Ser)	rs750230877	0.00004
NM_001985.3(ETFB):c.142G>A (p.Glu48Lys)	rs750117869	0.00003
NM_001985.3(ETFB):c.232G>A (p.Ala78Thr)	rs548046212	0.00003
NM_001985.3(ETFB):c.274C>T (p.Pro92Ser)	rs758509148	0.00003
NM_001985.3(ETFB):c.598A>G (p.Lys200Glu)	rs920672041	0.00003
NM_001985.3(ETFB):c.687C>A (p.Asp229Glu)	rs200877363	0.00003
NM_001985.3(ETFB):c.134C>T (p.Ala45Val)	rs770414295	0.00002
NM_001985.3(ETFB):c.316C>T (p.Arg106Trp)	rs748730384	0.00002
NM_001985.3(ETFB):c.382G>A (p.Asp128Asn)	rs104894678	0.00002
NM_001985.3(ETFB):c.113T>C (p.Met38Thr)	rs775541180	0.00001
NM_001985.3(ETFB):c.293G>A (p.Arg98His)	rs761063406	0.00001
NM_001985.3(ETFB):c.438+5G>T	rs1450691951	0.00001
NM_001985.3(ETFB):c.571C>T (p.Arg191Cys)	rs772976948	0.00001
NM_001985.3(ETFB):c.572G>A (p.Arg191His)	rs769951998	0.00001
NM_001985.3(ETFB):c.58-87A>C	rs1986023015	0.00001
NM_001985.3(ETFB):c.597+6C>T	rs539989327	0.00001
NM_001985.3(ETFB):c.645dup (p.Val216fs)	rs1428088327	0.00001
NM_001985.3(ETFB):c.92C>T (p.Thr31Met)	rs371751519	0.00001
NC_000019.9:g.(?_51848465)_(51856564_?)dup
NM_001985.3(ETFB):c.122T>C (p.Phe41Ser)	rs746082442
NM_001985.3(ETFB):c.14G>T (p.Arg5Leu)
NM_001985.3(ETFB):c.151C>G (p.Arg51Gly)
NM_001985.3(ETFB):c.152G>A (p.Arg51Gln)
NM_001985.3(ETFB):c.166A>C (p.Lys56Gln)
NM_001985.3(ETFB):c.186C>G (p.Ile62Met)
NM_001985.3(ETFB):c.190G>A (p.Val64Ile)
NM_001985.3(ETFB):c.22G>A (p.Val8Ile)	rs531136177
NM_001985.3(ETFB):c.22G>C (p.Val8Leu)
NM_001985.3(ETFB):c.247G>A (p.Ala83Thr)	rs1352787179
NM_001985.3(ETFB):c.254G>A (p.Arg85Gln)
NM_001985.3(ETFB):c.257G>T (p.Gly86Val)
NM_001985.3(ETFB):c.259A>G (p.Ile87Val)	rs2123587270
NM_001985.3(ETFB):c.2T>C (p.Met1Thr)
NM_001985.3(ETFB):c.326C>A (p.Ala109Asp)
NM_001985.3(ETFB):c.334G>T (p.Ala112Ser)
NM_001985.3(ETFB):c.343_345del (p.Glu115del)
NM_001985.3(ETFB):c.353A>G (p.Asp118Gly)
NM_001985.3(ETFB):c.358G>T (p.Val120Leu)
NM_001985.3(ETFB):c.375+6T>G
NM_001985.3(ETFB):c.395A>C (p.Asn132Thr)
NM_001985.3(ETFB):c.411G>A (p.Met137Ile)
NM_001985.3(ETFB):c.438+4A>G
NM_001985.3(ETFB):c.438+5G>A
NM_001985.3(ETFB):c.498C>G (p.Ile166Met)
NM_001985.3(ETFB):c.499G>A (p.Asp167Asn)
NM_001985.3(ETFB):c.499G>C (p.Asp167His)	rs140614695
NM_001985.3(ETFB):c.49G>T (p.Ala17Ser)
NM_001985.3(ETFB):c.520C>G (p.Arg174Gly)	rs755539437
NM_001985.3(ETFB):c.520C>T (p.Arg174Cys)
NM_001985.3(ETFB):c.52G>T (p.Val18Leu)
NM_001985.3(ETFB):c.53T>G (p.Val18Gly)
NM_001985.3(ETFB):c.58-196_58-194del	rs768440463
NM_001985.3(ETFB):c.58-27C>T
NM_001985.3(ETFB):c.58-57dup	rs74357706
NM_001985.3(ETFB):c.589A>G (p.Asn197Asp)	rs747411704
NM_001985.3(ETFB):c.598-3C>T
NM_001985.3(ETFB):c.605AGA[3] (p.Lys205del)	rs767519060
NM_001985.3(ETFB):c.611A>G (p.Lys204Arg)
NM_001985.3(ETFB):c.622G>A (p.Val208Met)
NM_001985.3(ETFB):c.62G>A (p.Arg21Gln)	rs369216610
NM_001985.3(ETFB):c.631C>T (p.Pro211Ser)
NM_001985.3(ETFB):c.632C>A (p.Pro211His)	rs760907327
NM_001985.3(ETFB):c.676A>T (p.Ser226Cys)	rs2123567525
NM_001985.3(ETFB):c.697C>T (p.Arg233Cys)	rs761714465
NM_001985.3(ETFB):c.706G>C (p.Gly236Arg)
NM_001985.3(ETFB):c.715G>A (p.Val239Met)
NM_001985.3(ETFB):c.760C>T (p.Arg254Trp)	rs370522844
NM_001985.3(ETFB):c.78G>T (p.Arg26Ser)
NM_001985.3(ETFB):c.82G>C (p.Gly28Arg)
NM_001985.3(ETFB):c.98G>A (p.Gly33Asp)

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