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Variants search result for Homo sapiens
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41 records found for search term Acot7
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
15157894CV778836single nucleotide variantNM_007274.4(ACOT7):c.1014+8C>Tnot provided [RCV000969395]benign162810946281094Humanname
156183045CV2222352single nucleotide variantNM_007274.4(ACOT7):c.143+7723A>Gnot specified [RCV004099224]uncertain significance163855346385534Humanname
155931636CV2362605single nucleotide variantNM_007274.4(ACOT7):c.143+7699G>Anot specified [RCV004215258]uncertain significance163855586385558Humanname
401739023CV2708285single nucleotide variantNM_007274.4(ACOT7):c.143+7604C>Tnot specified [RCV004311626]uncertain significance163856536385653Humanname
401886150CV2774857single nucleotide variantNM_007274.4(ACOT7):c.143+7684C>Tnot specified [RCV004343941]uncertain significance163855736385573Humanname
405238464CV3081228insertionNM_007274.4(ACOT7):c.-62_-61insCnot provided [RCV003736357]benign163934606393461Humanname
405292286CV3192396single nucleotide variantNM_007274.4(ACOT7):c.144-8956C>TACOT7-related disorder [RCV003929666]benign163588226358822Humanname , trait , alternate_id
405281839CV3216115single nucleotide variantNM_007274.4(ACOT7):c.143+7755T>CACOT7-related disorder [RCV003956657]likely benign163855026385502Humanname , trait , alternate_id
407500642CV3417786single nucleotide variantNM_007274.4(ACOT7):c.143+7615C>Gnot specified [RCV004607178]uncertain significance163856426385642Humanname
597774299CV3643403single nucleotide variantNM_007274.4(ACOT7):c.143+7705G>Anot specified [RCV004897981]likely benign163855526385552Humanname
597749142CV3643419single nucleotide variantNM_007274.4(ACOT7):c.143+7711G>Anot specified [RCV004892294]uncertain significance163855466385546Humanname
597749148CV3643429single nucleotide variantNM_007274.4(ACOT7):c.143+7615C>Tnot specified [RCV004892295]uncertain significance163856426385642Humanname
597774315CV3643460single nucleotide variantNM_007274.4(ACOT7):c.143+7603G>Tnot specified [RCV004897985]uncertain significance163856546385654Humanname
405277334CV3195410single nucleotide variantNM_007274.4(ACOT7):c.144-10787G>AACOT7-related disorder [RCV003904198]likely benign163606536360653Humanname , trait , alternate_id
405292993CV3207152single nucleotide variantNM_007274.4(ACOT7):c.306C>T (p.Phe102=)ACOT7-related disorder [RCV003931558]likely benign163395456339545Humanname , trait , alternate_id
405285283CV3212277single nucleotide variantNM_007274.4(ACOT7):c.384G>A (p.Val128=)ACOT7-related disorder [RCV003958902]benign163394676339467Humanname , trait , alternate_id
15194469CV696829single nucleotide variantNM_007274.4(ACOT7):c.798C>T (p.Asp266=)not provided [RCV000955656]benign162948956294895Humanname
156386265CV2228161single nucleotide variantNM_007274.4(ACOT7):c.284C>T (p.Ala95Val)not specified [RCV004096374]uncertain significance163395676339567Humanname
401752427CV2707005single nucleotide variantNM_007274.4(ACOT7):c.259G>A (p.Gly87Arg)not specified [RCV004321602]uncertain significance163497516349751Humanname
405272433CV3221810single nucleotide variantNM_007274.4(ACOT7):c.1023C>T (p.Thr341=)ACOT7-related disorder [RCV003972177]benign162646876264687Humanname , trait , alternate_id
407489711CV3417767single nucleotide variantNM_007274.4(ACOT7):c.187G>A (p.Gly63Arg)not specified [RCV004604115]uncertain significance163498236349823Humanname
407489128CV3417777single nucleotide variantNM_007274.4(ACOT7):c.265C>T (p.Arg89Cys)not specified [RCV004604124]uncertain significance163395866339586Humanname
597774307CV3643443single nucleotide variantNM_007274.4(ACOT7):c.239G>A (p.Arg80Gln)not specified [RCV004897983]uncertain significance163497716349771Humanname
156227527CV2203218single nucleotide variantNM_007274.4(ACOT7):c.534G>C (p.Glu178Asp)not specified [RCV004070909]uncertain significance163273906327390Humanname
156345648CV2291148single nucleotide variantNM_007274.4(ACOT7):c.872A>G (p.Asn291Ser)not specified [RCV004153455]uncertain significance162812446281244Humanname
156351668CV2323809single nucleotide variantNM_007274.4(ACOT7):c.595G>A (p.Gly199Arg)not specified [RCV004176350]uncertain significance163273296327329Humanname
329396321CV2462508single nucleotide variantNM_007274.4(ACOT7):c.586T>G (p.Trp196Gly)not specified [RCV004276684]uncertain significance163273386327338Humanname
401866701CV2782919single nucleotide variantNM_007274.4(ACOT7):c.889G>A (p.Glu297Lys)not specified [RCV004361718]uncertain significance162812276281227Humanname
405738067CV3292004single nucleotide variantNM_007274.4(ACOT7):c.517C>G (p.Arg173Gly)not specified [RCV004430268]uncertain significance163274076327407Humanname
405738145CV3292017single nucleotide variantNM_007274.4(ACOT7):c.704T>G (p.Val235Gly)not specified [RCV004430281]uncertain significance163185006318500Humanname
405738166CV3292020single nucleotide variantNM_007274.4(ACOT7):c.866C>T (p.Thr289Met)not specified [RCV004430284]uncertain significance162812506281250Humanname
407500647CV3417796single nucleotide variantNM_007274.4(ACOT7):c.596G>A (p.Gly199Glu)not specified [RCV004607179]uncertain significance163273286327328Humanname
597774311CV3643454single nucleotide variantNM_007274.4(ACOT7):c.518G>A (p.Arg173Gln)not specified [RCV004897984]uncertain significance163274066327406Humanname
13485250CV442871single nucleotide variantNM_007274.4(ACOT7):c.937T>C (p.Tyr313His)not provided [RCV000522552]uncertain significance162811796281179Humanname
156041428CV2261378single nucleotide variantNM_007274.4(ACOT7):c.1088A>G (p.Gln363Arg)not specified [RCV004130018]uncertain significance162646226264622Humanname
155907502CV2302227single nucleotide variantNM_007274.4(ACOT7):c.1099G>A (p.Glu367Lys)not specified [RCV004159220]uncertain significance162646116264611Humanname
405737910CV3291981single nucleotide variantNM_007274.4(ACOT7):c.1097C>T (p.Ala366Val)not specified [RCV004430245]uncertain significance162646136264613Humanname
597774337CV3639965single nucleotide variantNM_007274.4(ACOT7):c.1018G>A (p.Glu340Lys)not specified [RCV004897991]uncertain significance162646926264692Humanname
597774303CV3643435single nucleotide variantNM_007274.4(ACOT7):c.1109C>G (p.Pro370Arg)not specified [RCV004897982]uncertain significance162646016264601Humanname
598248505CV3949652single nucleotide variantNM_007274.4(ACOT7):c.1096G>A (p.Ala366Thr)not specified [RCV005298033]likely benign162646146264614Humanname
598161724CV3949655single nucleotide variantNM_007274.4(ACOT7):c.1057G>A (p.Gly353Arg)not specified [RCV005307067]uncertain significance162646536264653Humanname