ClinVar Miner

List of variants studied for 3-Methylglutaconic aciduria type 3 by Baylor Genetics

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001017989.3(OPA3):c.184G>A (p.Gly62Ser) rs140959406 0.00223
NM_025136.4(OPA3):c.367C>T (p.Arg123Trp) rs1022155897 0.00001
NM_025136.4(OPA3):c.52C>T (p.Gln18Ter) rs1568413644 0.00001
NM_025136.4(OPA3):c.142+1G>A rs1555736793
NM_025136.4(OPA3):c.143-1G>C rs80356523
NM_025136.4(OPA3):c.217G>T (p.Glu73Ter)
NM_025136.4(OPA3):c.217dup (p.Glu73fs) rs1555732963
NM_025136.4(OPA3):c.227dup (p.Ala77fs)
NM_025136.4(OPA3):c.287del (p.Cys96fs)
NM_025136.4(OPA3):c.313C>T (p.Gln105Ter)
NM_025136.4(OPA3):c.411_422delinsC (p.Gln137fs)
NM_025136.4(OPA3):c.45del (p.Ile16fs)
NM_025136.4(OPA3):c.82_84delinsT (p.Ile27_Lys28insTer)
NM_025136.4(OPA3):c.97C>T (p.Arg33Ter)

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