List of variants reported as uncertain significance for 3-methylglutaconic aciduria type 3 by Labcorp Genetics (formerly Invitae), Labcorp

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 108

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HGVS	dbSNP	gnomAD frequency
NM_025136.4(OPA3):c.428C>T (p.Ala143Val)	rs553598004	0.00006
NM_025136.4(OPA3):c.372C>A (p.Asp124Glu)	rs755348694	0.00004
NM_025136.4(OPA3):c.143-5C>A	rs770452409	0.00003
NM_025136.4(OPA3):c.526G>A (p.Ala176Thr)	rs755841329	0.00003
NM_025136.4(OPA3):c.241G>A (p.Ala81Thr)	rs186796646	0.00002
NM_025136.4(OPA3):c.123C>G (p.Ile41Met)	rs763083098	0.00001
NM_025136.4(OPA3):c.197C>T (p.Thr66Met)	rs753129998	0.00001
NM_025136.4(OPA3):c.224C>T (p.Ala75Val)	rs769541845	0.00001
NM_025136.4(OPA3):c.305_322dup (p.Gln107_Gln108insArgArgHisGlnAlaGln)	rs1599964564	0.00001
NM_025136.4(OPA3):c.355T>A (p.Trp119Arg)	rs375471439	0.00001
NM_025136.4(OPA3):c.373G>A (p.Glu125Lys)	rs1346674058	0.00001
NM_025136.4(OPA3):c.404C>G (p.Ala135Gly)	rs372640359	0.00001
NM_025136.4(OPA3):c.487C>T (p.Leu163Phe)	rs780492515	0.00001
NM_025136.4(OPA3):c.499G>C (p.Gly167Arg)	rs1364874488	0.00001
NM_025136.4(OPA3):c.503G>A (p.Arg168Gln)	rs779505447	0.00001
NM_025136.4(OPA3):c.508G>A (p.Ala170Thr)	rs374639297	0.00001
NM_025136.4(OPA3):c.540G>C (p.Ter180Tyr)	rs774281852	0.00001
NM_001017989.3(OPA3):c.464_467dup (p.Gln157fs)	rs1599947052
NM_025136.4(OPA3):c.115A>G (p.Thr39Ala)
NM_025136.4(OPA3):c.121A>G (p.Ile41Val)
NM_025136.4(OPA3):c.127C>G (p.Leu43Val)	rs2122529195
NM_025136.4(OPA3):c.131C>T (p.Pro44Leu)	rs2122529178
NM_025136.4(OPA3):c.136G>A (p.Ala46Thr)
NM_025136.4(OPA3):c.142+2_142+3dup	rs1555736791
NM_025136.4(OPA3):c.142+3_142+6del
NM_025136.4(OPA3):c.142+4A>T	rs765495449
NM_025136.4(OPA3):c.145T>C (p.Tyr49His)	rs1384629048
NM_025136.4(OPA3):c.170A>G (p.Lys57Arg)
NM_025136.4(OPA3):c.17T>C (p.Phe6Ser)	rs2122529643
NM_025136.4(OPA3):c.182T>C (p.Met61Thr)	rs1052079541
NM_025136.4(OPA3):c.201del (p.Ile68fs)
NM_025136.4(OPA3):c.206A>C (p.Lys69Thr)	rs760083523
NM_025136.4(OPA3):c.206_258del (p.Lys69fs)	rs2122440115
NM_025136.4(OPA3):c.212T>C (p.Leu71Pro)
NM_025136.4(OPA3):c.217dup (p.Glu73fs)	rs1555732963
NM_025136.4(OPA3):c.220G>A (p.Glu74Lys)
NM_025136.4(OPA3):c.220G>T (p.Glu74Ter)
NM_025136.4(OPA3):c.226G>T (p.Ala76Ser)
NM_025136.4(OPA3):c.238G>A (p.Gly80Ser)
NM_025136.4(OPA3):c.239G>T (p.Gly80Val)	rs2122440257
NM_025136.4(OPA3):c.23T>C (p.Met8Thr)
NM_025136.4(OPA3):c.244G>T (p.Glu82Ter)
NM_025136.4(OPA3):c.24G>A (p.Met8Ile)
NM_025136.4(OPA3):c.253G>C (p.Gly85Arg)
NM_025136.4(OPA3):c.254G>A (p.Gly85Asp)	rs1599964721
NM_025136.4(OPA3):c.256G>A (p.Glu86Lys)
NM_025136.4(OPA3):c.25G>A (p.Ala9Thr)
NM_025136.4(OPA3):c.265A>G (p.Ile89Val)
NM_025136.4(OPA3):c.274G>A (p.Val92Met)	rs752893027
NM_025136.4(OPA3):c.275T>C (p.Val92Ala)
NM_025136.4(OPA3):c.289C>G (p.Leu97Val)
NM_025136.4(OPA3):c.293T>G (p.Val98Gly)	rs967310075
NM_025136.4(OPA3):c.296T>G (p.Leu99Arg)	rs1555732924
NM_025136.4(OPA3):c.304T>G (p.Trp102Gly)
NM_025136.4(OPA3):c.30G>C (p.Lys10Asn)
NM_025136.4(OPA3):c.313C>A (p.Gln105Lys)	rs80356525
NM_025136.4(OPA3):c.313C>T (p.Gln105Ter)
NM_025136.4(OPA3):c.316G>A (p.Ala106Thr)
NM_025136.4(OPA3):c.317C>T (p.Ala106Val)	rs764633370
NM_025136.4(OPA3):c.337G>A (p.Glu113Lys)
NM_025136.4(OPA3):c.34C>G (p.Leu12Val)
NM_025136.4(OPA3):c.352G>C (p.Ala118Pro)
NM_025136.4(OPA3):c.360C>A (p.Asn120Lys)
NM_025136.4(OPA3):c.362C>T (p.Ala121Val)
NM_025136.4(OPA3):c.368_369delinsCT (p.Arg123Pro)
NM_025136.4(OPA3):c.373G>C (p.Glu125Gln)
NM_025136.4(OPA3):c.374A>T (p.Glu125Val)
NM_025136.4(OPA3):c.380G>A (p.Gly127Asp)
NM_025136.4(OPA3):c.383_385dup (p.His128_Leu129insHis)
NM_025136.4(OPA3):c.392T>A (p.Leu131Gln)
NM_025136.4(OPA3):c.395C>A (p.Ala132Glu)	rs758982194
NM_025136.4(OPA3):c.395C>T (p.Ala132Val)
NM_025136.4(OPA3):c.40T>G (p.Leu14Val)
NM_025136.4(OPA3):c.410A>C (p.Gln137Pro)	rs372161100
NM_025136.4(OPA3):c.417G>C (p.Gln139His)
NM_025136.4(OPA3):c.423_424delinsCT (p.Gln141_Ala142delinsHisSer)
NM_025136.4(OPA3):c.424G>C (p.Ala142Pro)	rs535683352
NM_025136.4(OPA3):c.425C>T (p.Ala142Val)	rs2122438899
NM_025136.4(OPA3):c.427G>C (p.Ala143Pro)
NM_025136.4(OPA3):c.429_430delinsAA (p.Pro144Thr)
NM_025136.4(OPA3):c.431C>A (p.Pro144Gln)	rs775398472
NM_025136.4(OPA3):c.431C>G (p.Pro144Arg)
NM_025136.4(OPA3):c.433C>T (p.Pro145Ser)
NM_025136.4(OPA3):c.434C>T (p.Pro145Leu)
NM_025136.4(OPA3):c.436C>A (p.Gln146Lys)
NM_025136.4(OPA3):c.437A>G (p.Gln146Arg)
NM_025136.4(OPA3):c.439_440del (p.Gly147fs)
NM_025136.4(OPA3):c.448G>C (p.Glu150Gln)
NM_025136.4(OPA3):c.455T>C (p.Leu152Pro)
NM_025136.4(OPA3):c.458G>T (p.Arg153Leu)
NM_025136.4(OPA3):c.469C>G (p.Gln157Glu)
NM_025136.4(OPA3):c.472G>A (p.Glu158Lys)
NM_025136.4(OPA3):c.484C>G (p.Gln162Glu)
NM_025136.4(OPA3):c.484C>T (p.Gln162Ter)
NM_025136.4(OPA3):c.494A>G (p.Asn165Ser)
NM_025136.4(OPA3):c.502C>T (p.Arg168Trp)	rs750946088
NM_025136.4(OPA3):c.514C>T (p.His172Tyr)	rs1293731096
NM_025136.4(OPA3):c.517G>A (p.Ala173Thr)
NM_025136.4(OPA3):c.532A>G (p.Lys178Glu)	rs767372876
NM_025136.4(OPA3):c.55G>A (p.Val19Ile)	rs1343690502
NM_025136.4(OPA3):c.73A>G (p.Asn25Asp)
NM_025136.4(OPA3):c.77G>T (p.Arg26Leu)	rs1302916174
NM_025136.4(OPA3):c.7G>C (p.Val3Leu)
NM_025136.4(OPA3):c.81del (p.Lys28fs)
NM_025136.4(OPA3):c.87G>T (p.Glu29Asp)	rs1194417590
NM_025136.4(OPA3):c.89C>T (p.Ala30Val)
NM_025136.4(OPA3):c.91G>C (p.Ala31Pro)
NM_025136.4(OPA3):c.94C>T (p.Arg32Cys)

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