ClinVar Miner

List of variants in gene ETFB studied for acyl-CoA dehydrogenase deficiency

Included ClinVar conditions (6):
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Gene type:
ClinVar version:
Total variants: 26
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HGVS dbSNP
ETFB, 1-EX DEL, IVSDS, +1, G-C
NM_001985.3(ETFB):c.122T>C (p.Phe41Ser) rs746082442
NM_001985.3(ETFB):c.217-4G>T rs149557388
NM_001985.3(ETFB):c.227G>A (p.Arg76His) rs148567433
NM_001985.3(ETFB):c.253C>A (p.Arg85=) rs187424345
NM_001985.3(ETFB):c.278C>T (p.Pro93Leu) rs139519507
NM_001985.3(ETFB):c.292C>T (p.Arg98Cys) rs147353781
NM_001985.3(ETFB):c.382G>A (p.Asp128Asn) rs104894678
NM_001985.3(ETFB):c.447C>T (p.Phe149=) rs144640661
NM_001985.3(ETFB):c.452C>T (p.Ser151Phe) rs74735908
NM_001985.3(ETFB):c.461C>T (p.Thr154Met) rs1130426
NM_001985.3(ETFB):c.491G>A (p.Arg164Gln) rs104894677
NM_001985.3(ETFB):c.521G>A (p.Arg174His) rs141917423
NM_001985.3(ETFB):c.565G>A (p.Glu189Lys) rs376065198
NM_001985.3(ETFB):c.577G>A (p.Ala193Thr) rs200186078
NM_001985.3(ETFB):c.58-196_58-194del rs768440463
NM_001985.3(ETFB):c.58-212A>C rs143144671
NM_001985.3(ETFB):c.58-318_58-313dup rs61361626
NM_001985.3(ETFB):c.58-57C>T rs766066977
NM_001985.3(ETFB):c.58-57dup rs74357706
NM_001985.3(ETFB):c.598A>G (p.Lys200Glu) rs920672041
NM_001985.3(ETFB):c.618C>T (p.Ile206=) rs533794107
NM_001985.3(ETFB):c.632C>A (p.Pro211His)
NM_001985.3(ETFB):c.697C>T (p.Arg233Cys) rs761714465
NM_001985.3(ETFB):c.709G>A (p.Val237Ile) rs149129214
NM_001985.3(ETFB):c.761G>A (p.Arg254Gln) rs145173884

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