ClinVar Miner

List of variants studied for 3-methylglutaconic aciduria type 3 by Invitae

Included ClinVar conditions (2):
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Total variants: 23
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HGVS dbSNP
NC_000019.10:g.(?_45553504)_(45553921_?)del
NC_000019.10:g.(?_45584613)_(45584774_?)del
NM_001017989.3(OPA3):c.464_467dup (p.Gln157fs) rs1599947052
NM_025136.4(OPA3):c.120T>C (p.Tyr40=) rs752657560
NM_025136.4(OPA3):c.142+2_142+3dup rs1555736791
NM_025136.4(OPA3):c.143-1G>C rs80356523
NM_025136.4(OPA3):c.143-2_143-1delinsCC
NM_025136.4(OPA3):c.182T>C (p.Met61Thr)
NM_025136.4(OPA3):c.213G>A (p.Leu71=) rs1258779986
NM_025136.4(OPA3):c.237G>C (p.Leu79=) rs943536843
NM_025136.4(OPA3):c.249G>C (p.Leu83=) rs199692583
NM_025136.4(OPA3):c.252G>A (p.Leu84=) rs757297634
NM_025136.4(OPA3):c.305_322dup (p.Gln108_Arg109insArgArgHisGlnAlaGln) rs1599964564
NM_025136.4(OPA3):c.313C>G (p.Gln105Glu) rs80356525
NM_025136.4(OPA3):c.367C>A (p.Arg123=) rs1022155897
NM_025136.4(OPA3):c.39C>T (p.Tyr13=) rs374843726
NM_025136.4(OPA3):c.405G>A (p.Ala135=) rs750848548
NM_025136.4(OPA3):c.410A>C (p.Gln137Pro)
NM_025136.4(OPA3):c.412G>A (p.Ala138Thr) rs201574732
NM_025136.4(OPA3):c.429G>A (p.Ala143=) rs745373208
NM_025136.4(OPA3):c.478C>T (p.Arg160Cys) rs137978109
NM_025136.4(OPA3):c.532A>G (p.Lys178Glu) rs767372876
NM_025136.4(OPA3):c.537A>G (p.Lys179=) rs140105522

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