List of variants in gene AUH studied for classic organic aciduria

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 157

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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.*107A>G	rs75505223	0.01845
NM_001698.3(AUH):c.927A>G (p.Glu309=)	rs78739693	0.00399
NM_001698.3(AUH):c.*200A>G	rs113687423	0.00297
NM_001698.3(AUH):c.381A>G (p.Ile127Met)	rs146227896	0.00125
NM_001698.3(AUH):c.*29G>A	rs200499826	0.00116
NM_001698.3(AUH):c.598+10A>C	rs186203318	0.00066
NM_001698.3(AUH):c.*432C>T	rs746233646	0.00044
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.218_219del	rs1057515675	0.00010
NM_001698.3(AUH):c.679G>A (p.Ala227Thr)	rs141700491	0.00010
NM_001698.3(AUH):c.*237G>A	rs933932318	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.795C>T (p.Asp265=)	rs761573002	0.00005
NM_001698.3(AUH):c.991A>T (p.Lys331Ter)	rs387906757	0.00005
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.263-11C>T	rs759369259	0.00002
NM_001698.3(AUH):c.505+1G>C	rs773652620	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.263-2A>G	rs730880311	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.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
NM_001698.3(AUH):c.943-2A>G	rs730880312	0.00001
NC_000009.11:g.(?_94118145)_(94118457_?)del
NC_000009.12:g.(?_91220785)_(91221012_?)del
NC_000009.12:g.91220993dup	rs781142774
NG_008017.1:g.?_(11043_41520)del
NM_001698.3(AUH):c.*175G>A	rs1826691653
NM_001698.3(AUH):c.259_262del	rs377176126
NM_001698.3(AUH):c.*60G>A	rs1564001076
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.330+1G>A	rs751318305
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.373C>T (p.Arg125Trp)	rs200030276
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.408A>G (p.Ile136Met)
NM_001698.3(AUH):c.419-2A>G
NM_001698.3(AUH):c.419-5T>G
NM_001698.3(AUH):c.419G>A (p.Gly140Asp)	rs1829899485
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.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.556G>T (p.Gly186Cys)	rs1040881767
NM_001698.3(AUH):c.559G>A (p.Gly187Ser)	rs387906755
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.650G>A (p.Gly217Asp)	rs387906756
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.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.895-1G>A	rs730880309
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.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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