ClinVar Miner

List of variants studied for 3-methylglutaconic aciduria type 1 by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 171
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HGVS dbSNP gnomAD frequency
NM_001698.3(AUH):c.483A>C (p.Ile161=) rs7874056 0.11827
NM_001698.3(AUH):c.331-6G>A rs10991898 0.08502
NM_001698.3(AUH):c.77G>A (p.Cys26Tyr) rs74484860 0.00593
NM_001698.3(AUH):c.182C>A (p.Pro61His) rs181327211 0.00487
NM_001698.3(AUH):c.927A>G (p.Glu309=) rs78739693 0.00399
NM_001698.3(AUH):c.381A>G (p.Ile127Met) rs146227896 0.00125
NM_001698.3(AUH):c.135G>A (p.Ala45=) rs774989333 0.00111
NM_001698.3(AUH):c.140C>T (p.Pro47Leu) rs200564356 0.00068
NM_001698.3(AUH):c.598+10A>C rs186203318 0.00066
NM_001698.3(AUH):c.730G>A (p.Asp244Asn) rs202182817 0.00039
NM_001698.3(AUH):c.807G>A (p.Arg269=) rs145208407 0.00032
NM_001698.3(AUH):c.936T>C (p.Tyr312=) rs139628387 0.00029
NM_001698.3(AUH):c.791G>A (p.Gly264Glu) rs376821113 0.00024
NM_001698.3(AUH):c.464G>C (p.Gly155Ala) rs377491933 0.00022
NM_001698.3(AUH):c.262+14G>A rs200386272 0.00019
NM_001698.3(AUH):c.330+13A>T rs374741033 0.00019
NM_001698.3(AUH):c.678C>T (p.Arg226=) rs143768042 0.00015
NM_001698.3(AUH):c.721C>T (p.Arg241Ter) rs200212229 0.00012
NM_001698.3(AUH):c.926A>C (p.Glu309Ala) rs749713024 0.00011
NM_001698.3(AUH):c.679G>A (p.Ala227Thr) rs141700491 0.00010
NM_001698.3(AUH):c.20C>T (p.Ala7Val) rs863223911 0.00009
NM_001698.3(AUH):c.998C>T (p.Pro333Leu) rs541546111 0.00009
NM_001698.3(AUH):c.1004G>A (p.Arg335His) rs529693736 0.00006
NM_001698.3(AUH):c.656-8C>T rs199879150 0.00006
NM_001698.3(AUH):c.720G>A (p.Ala240=) rs780040124 0.00006
NM_001698.3(AUH):c.843+13A>G rs747375365 0.00006
NM_001698.3(AUH):c.158G>T (p.Gly53Val) rs747819278 0.00005
NM_001698.3(AUH):c.795C>T (p.Asp265=) rs761573002 0.00005
NM_001698.3(AUH):c.991A>T (p.Lys331Ter) rs387906757 0.00005
NM_001698.3(AUH):c.117G>C (p.Ser39=) rs759828827 0.00004
NM_001698.3(AUH):c.330+9A>G rs145402420 0.00004
NM_001698.3(AUH):c.374G>A (p.Arg125Gln) rs137939308 0.00004
NM_001698.3(AUH):c.656-2_656-1del rs757748207 0.00004
NM_001698.3(AUH):c.824C>T (p.Ala275Val) rs748318386 0.00004
NM_001698.3(AUH):c.844-20T>C rs769924401 0.00004
NM_001698.3(AUH):c.506-9C>T rs537751591 0.00003
NM_001698.3(AUH):c.589C>T (p.Arg197Ter) rs121434636 0.00003
NM_001698.3(AUH):c.657G>A (p.Gly219=) rs141110052 0.00003
NM_001698.3(AUH):c.746A>G (p.Lys249Arg) rs752072326 0.00003
NM_001698.3(AUH):c.198C>T (p.Gly66=) rs1268067238 0.00002
NM_001698.3(AUH):c.263-11C>T rs759369259 0.00002
NM_001698.3(AUH):c.655+15C>T rs781269099 0.00002
NM_001698.3(AUH):c.655+7G>A rs748099966 0.00002
NM_001698.3(AUH):c.676C>T (p.Arg226Cys) rs148157596 0.00002
NM_001698.3(AUH):c.719C>T (p.Ala240Val) rs769894315 0.00002
NM_001698.3(AUH):c.722G>A (p.Arg241Gln) rs1269002301 0.00002
NM_001698.3(AUH):c.850G>A (p.Val284Ile) rs748245565 0.00002
NM_001698.3(AUH):c.943-6T>C rs778134028 0.00002
NM_001698.3(AUH):c.1003C>T (p.Arg335Cys) rs772918339 0.00001
NM_001698.3(AUH):c.222G>A (p.Glu74=) rs1587943178 0.00001
NM_001698.3(AUH):c.25C>G (p.Pro9Ala) rs1461159226 0.00001
NM_001698.3(AUH):c.305C>T (p.Ser102Leu) rs368115216 0.00001
NM_001698.3(AUH):c.323T>C (p.Ile108Thr) rs531669666 0.00001
NM_001698.3(AUH):c.331-8C>T rs758271092 0.00001
NM_001698.3(AUH):c.476C>G (p.Ser159Cys) rs1282582845 0.00001
NM_001698.3(AUH):c.547G>A (p.Ala183Thr) rs548411527 0.00001
NM_001698.3(AUH):c.56G>T (p.Gly19Val) rs1832891431 0.00001
NM_001698.3(AUH):c.655+3A>C rs755914350 0.00001
NM_001698.3(AUH):c.656-2del rs780964098 0.00001
NM_001698.3(AUH):c.769G>A (p.Val257Ile) rs749920943 0.00001
NM_001698.3(AUH):c.797C>T (p.Ala266Val) rs570875104 0.00001
NM_001698.3(AUH):c.798G>A (p.Ala266=) rs760509061 0.00001
NM_001698.3(AUH):c.860G>C (p.Arg287Thr) rs1826877739 0.00001
NM_001698.3(AUH):c.864G>A (p.Val288=) rs199569104 0.00001
NM_001698.3(AUH):c.894+9C>A rs1388023086 0.00001
NM_001698.3(AUH):c.898G>A (p.Asp300Asn) rs746215620 0.00001
NC_000009.11:g.(?_94058283)_(94538120_?)dup
NC_000009.11:g.(?_94118145)_(94118457_?)del
NC_000009.12:g.(?_91220785)_(91221012_?)del
NC_000009.12:g.91220993dup rs781142774
NM_001698.3(AUH):c.107T>C (p.Leu36Pro)
NM_001698.3(AUH):c.10G>A (p.Ala4Thr)
NM_001698.3(AUH):c.12G>A (p.Ala4=)
NM_001698.3(AUH):c.12G>C (p.Ala4=)
NM_001698.3(AUH):c.153C>T (p.Ala51=)
NM_001698.3(AUH):c.156G>C (p.Gln52His)
NM_001698.3(AUH):c.174C>T (p.Ala58=)
NM_001698.3(AUH):c.197G>C (p.Gly66Ala)
NM_001698.3(AUH):c.197G>T (p.Gly66Val) rs1323577454
NM_001698.3(AUH):c.197del (p.Gly66fs) rs1219516037
NM_001698.3(AUH):c.204C>G (p.Ser68Arg)
NM_001698.3(AUH):c.20C>A (p.Ala7Glu)
NM_001698.3(AUH):c.211A>C (p.Met71Leu) rs756127206
NM_001698.3(AUH):c.215_217dup (p.Lys72_Thr73insLys)
NM_001698.3(AUH):c.231G>C (p.Leu77=)
NM_001698.3(AUH):c.232C>T (p.Arg78Trp)
NM_001698.3(AUH):c.23C>T (p.Ala8Val)
NM_001698.3(AUH):c.243C>G (p.His81Gln) rs372245304
NM_001698.3(AUH):c.261A>T (p.Arg87=) rs2132125368
NM_001698.3(AUH):c.262+10G>A
NM_001698.3(AUH):c.262+8G>A
NM_001698.3(AUH):c.263-10C>T
NM_001698.3(AUH):c.263-15T>C rs1341392485
NM_001698.3(AUH):c.263-5_263-2del rs752149463
NM_001698.3(AUH):c.268_282del (p.Val90_Ile94del) rs2132084310
NM_001698.3(AUH):c.304T>A (p.Ser102Thr) rs1554721818
NM_001698.3(AUH):c.331-12A>G
NM_001698.3(AUH):c.331-14C>T
NM_001698.3(AUH):c.331-20T>A
NM_001698.3(AUH):c.341C>G (p.Ala114Gly)
NM_001698.3(AUH):c.342T>C (p.Ala114=)
NM_001698.3(AUH):c.350C>T (p.Ala117Val) rs1832379274
NM_001698.3(AUH):c.382A>G (p.Ile128Val)
NM_001698.3(AUH):c.385A>G (p.Ile129Val) rs1423043030
NM_001698.3(AUH):c.385A>T (p.Ile129Phe) rs1423043030
NM_001698.3(AUH):c.39dup (p.Ser14fs)
NM_001698.3(AUH):c.408A>G (p.Ile136Met)
NM_001698.3(AUH):c.40T>C (p.Ser14Pro) rs1482564472
NM_001698.3(AUH):c.419-2A>G
NM_001698.3(AUH):c.419-5T>G
NM_001698.3(AUH):c.419G>T (p.Gly140Val)
NM_001698.3(AUH):c.430A>G (p.Lys144Glu) rs2131861010
NM_001698.3(AUH):c.434A>C (p.Glu145Ala) rs2131860995
NM_001698.3(AUH):c.445A>G (p.Met149Val)
NM_001698.3(AUH):c.466C>T (p.Pro156Ser)
NM_001698.3(AUH):c.467C>G (p.Pro156Arg)
NM_001698.3(AUH):c.471del (p.Phe157fs)
NM_001698.3(AUH):c.47A>G (p.His16Arg)
NM_001698.3(AUH):c.498C>G (p.Asn166Lys)
NM_001698.3(AUH):c.498C>T (p.Asn166=)
NM_001698.3(AUH):c.499G>A (p.Asp167Asn) rs776409546
NM_001698.3(AUH):c.505+18C>G
NM_001698.3(AUH):c.505+7A>G
NM_001698.3(AUH):c.506-6T>C
NM_001698.3(AUH):c.506-8C>T
NM_001698.3(AUH):c.516dup (p.Val173fs)
NM_001698.3(AUH):c.526A>G (p.Ile176Val)
NM_001698.3(AUH):c.546C>T (p.Leu182=)
NM_001698.3(AUH):c.573T>A (p.Ala191=)
NM_001698.3(AUH):c.578C>T (p.Ala193Val) rs2131662764
NM_001698.3(AUH):c.584A>C (p.Asp195Ala) rs1827482942
NM_001698.3(AUH):c.598+11A>T rs1406913489
NM_001698.3(AUH):c.598+9_598+12del rs749186187
NM_001698.3(AUH):c.599-2A>G rs1587799880
NM_001698.3(AUH):c.599-7G>A
NM_001698.3(AUH):c.623T>C (p.Val208Ala) rs1050057219
NM_001698.3(AUH):c.655+11T>A
NM_001698.3(AUH):c.655+3A>T
NM_001698.3(AUH):c.656-17T>G
NM_001698.3(AUH):c.656G>C (p.Gly219Ala) rs1827104191
NM_001698.3(AUH):c.658G>C (p.Gly220Arg)
NM_001698.3(AUH):c.66G>C (p.Leu22=)
NM_001698.3(AUH):c.677G>A (p.Arg226His)
NM_001698.3(AUH):c.690G>A (p.Met230Ile) rs1403383788
NM_001698.3(AUH):c.713T>C (p.Phe238Ser) rs1587621572
NM_001698.3(AUH):c.714C>T (p.Phe238=) rs1173204062
NM_001698.3(AUH):c.736A>G (p.Lys246Glu) rs2131215718
NM_001698.3(AUH):c.738A>G (p.Lys246=)
NM_001698.3(AUH):c.740A>C (p.Glu247Ala)
NM_001698.3(AUH):c.742G>A (p.Ala248Thr) rs755299132
NM_001698.3(AUH):c.768C>T (p.His256=)
NM_001698.3(AUH):c.780G>C (p.Gln260His)
NM_001698.3(AUH):c.804C>T (p.Tyr268=) rs775342115
NM_001698.3(AUH):c.809A>G (p.Lys270Arg)
NM_001698.3(AUH):c.825G>A (p.Ala275=)
NM_001698.3(AUH):c.833T>C (p.Phe278Ser) rs1398261487
NM_001698.3(AUH):c.856A>G (p.Met286Val) rs776767438
NM_001698.3(AUH):c.894+14dup rs2131194109
NM_001698.3(AUH):c.894+19G>C rs377735590
NM_001698.3(AUH):c.895-9del rs1194639501
NM_001698.3(AUH):c.897C>T (p.Val299=)
NM_001698.3(AUH):c.909A>C (p.Thr303=) rs779607746
NM_001698.3(AUH):c.942+4dup rs1554688047
NM_001698.3(AUH):c.943-16A>G
NM_001698.3(AUH):c.943-6del rs1826708001
NM_001698.3(AUH):c.951A>T (p.Pro317=) rs530710210
NM_001698.3(AUH):c.96G>A (p.Pro32=)
NM_001698.3(AUH):c.973C>G (p.Leu325Val)
NM_001698.3(AUH):c.980C>G (p.Ala327Gly)
NM_001698.3(AUH):c.996G>A (p.Arg332=)
NM_001698.3(AUH):c.997C>A (p.Pro333Thr)

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