ClinVar Miner

List of variants in gene ETFB reported as uncertain significance for Inborn genetic diseases

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Total variants: 17
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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.227G>A (p.Arg76His) rs148567433 0.00021
NM_001985.3(ETFB):c.40A>C (p.Ile14Leu) rs148261223 0.00011
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.82G>A (p.Gly28Ser) rs750230877 0.00004
NM_001985.3(ETFB):c.92C>T (p.Thr31Met) rs371751519 0.00001
NM_001985.3(ETFB):c.22G>A (p.Val8Ile) rs531136177
NM_001985.3(ETFB):c.254G>A (p.Arg85Gln)
NM_001985.3(ETFB):c.278dup (p.Ala94fs) rs869312947
NM_001985.3(ETFB):c.353A>G (p.Asp118Gly)
NM_001985.3(ETFB):c.498C>G (p.Ile166Met)
NM_001985.3(ETFB):c.499G>C (p.Asp167His) rs140614695
NM_001985.3(ETFB):c.581C>T (p.Thr194Met)
NM_001985.3(ETFB):c.736G>A (p.Val246Met)

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