ClinVar Miner

List of variants studied for 3-methylglutaconic aciduria type 3 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_025136.4(OPA3):c.-38A>G rs45527139 0.02241
NM_025136.4(OPA3):c.123C>G (p.Ile41Met) rs763083098 0.00001
NM_025136.4(OPA3):c.52C>T (p.Gln18Ter) rs1568413644 0.00001
NC_000019.10:g.45529163G>A rs1555730159
NC_000019.10:g.45529185C>T rs566450630
NM_001017989.3(OPA3):c.313C>T (p.Gln105Ter) rs1225701554
NM_001017989.3(OPA3):c.445del (p.Leu149fs) rs780299639
NM_001017989.3(OPA3):c.535delinsAA (p.Glu179fs) rs1555730141
NM_025136.4(OPA3):c.142+5G>C rs1250409781
NM_025136.4(OPA3):c.143-1G>C rs80356523
NM_025136.4(OPA3):c.244G>T (p.Glu82Ter)
NM_025136.4(OPA3):c.308_312del (p.Arg103fs)

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