List of variants reported as benign for 3-methylglutaconic aciduria type 1 by Illumina Laboratory Services, Illumina

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 85

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HGVS	dbSNP	gnomAD frequency
NM_001081.4(CUBN):c.8150C>G (p.Ser2717Trp)	rs2796835	0.99996
NM_001081.4(CUBN):c.6485G>A (p.Cys2162Tyr)	rs1276712	0.99748
NM_001081.4(CUBN):c.2791+9C>T	rs10795440	0.85809
NM_001081.4(CUBN):c.4563T>A (p.Ile1521=)	rs1801229	0.73095
NM_001081.4(CUBN):c.4675C>T (p.Pro1559Ser)	rs1801231	0.73090
NM_001081.4(CUBN):c.758T>C (p.Phe253Ser)	rs1801222	0.72079
NM_001081.4(CUBN):c.9843A>G (p.Thr3281=)	rs703064	0.70381
NM_001081.4(CUBN):c.1165C>A (p.Pro389Thr)	rs1801224	0.57919
NM_001081.4(CUBN):c.5856A>G (p.Ser1952=)	rs1801234	0.50897
NM_001081.4(CUBN):c.2487G>A (p.Ser829=)	rs1801225	0.34517
NM_001081.4(CUBN):c.*601A>G	rs780635	0.33593
NM_001081.4(CUBN):c.939C>T (p.Asn313=)	rs1801223	0.21191
NM_001081.4(CUBN):c.5343-8C>A	rs2271463	0.19092
NM_001081.4(CUBN):c.6124+8C>T	rs2271461	0.17332
NM_001081.4(CUBN):c.9030T>C (p.Ala3010=)	rs1801241	0.16648
NM_001081.4(CUBN):c.5803A>G (p.Ser1935Gly)	rs41289305	0.13356
NM_001081.4(CUBN):c.9005A>G (p.Glu3002Gly)	rs1801240	0.13166
NM_001081.4(CUBN):c.6459G>C (p.Leu2153Phe)	rs62619939	0.12797
NM_001081.4(CUBN):c.*134G>A	rs780636	0.12332
NM_001698.3(AUH):c.483A>C (p.Ile161=)	rs7874056	0.11827
NM_001081.4(CUBN):c.3522C>T (p.Gly1174=)	rs1873469	0.09173
NM_001698.3(AUH):c.331-6G>A	rs10991898	0.08502
NM_001081.4(CUBN):c.7662A>G (p.Pro2554=)	rs3740165	0.08317
NM_001081.4(CUBN):c.2188C>T (p.His730Tyr)	rs7905349	0.08051
NM_001081.4(CUBN):c.8950A>G (p.Ile2984Val)	rs1801239	0.07706
NM_001081.4(CUBN):c.5518G>A (p.Gly1840Ser)	rs2271462	0.07196
NM_001081.4(CUBN):c.5134C>T (p.Leu1712=)	rs2271468	0.07161
NM_001081.4(CUBN):c.10295C>G (p.Thr3432Ser)	rs7898873	0.06787
NM_001081.4(CUBN):c.618C>T (p.Tyr206=)	rs41289313	0.06126
NM_001081.4(CUBN):c.1245T>C (p.Gly415=)	rs12571671	0.05965
NM_001081.4(CUBN):c.5304C>T (p.Ile1768=)	rs61841454	0.05795
NM_001081.4(CUBN):c.7913-11A>G	rs7088988	0.05036
NM_001081.4(CUBN):c.109A>C (p.Ile37Leu)	rs76788243	0.03753
NM_001081.4(CUBN):c.3417A>G (p.Leu1139=)	rs1801228	0.02872
NM_001081.4(CUBN):c.8635C>A (p.Leu2879Ile)	rs1801238	0.02483
NM_001081.4(CUBN):c.2791+14C>T	rs111781659	0.02354
NM_001081.4(CUBN):c.196G>A (p.Gly66Arg)	rs12259370	0.02267
NM_001081.4(CUBN):c.7724C>G (p.Pro2575Arg)	rs3740168	0.02019
NM_001081.4(CUBN):c.2791+6A>C	rs78549445	0.01999
NM_001698.3(AUH):c.*107A>G	rs75505223	0.01845
NM_001081.4(CUBN):c.2571C>T (p.Asn857=)	rs17432826	0.01751
NM_001081.4(CUBN):c.10265C>T (p.Thr3422Ile)	rs1801230	0.01713
NM_001081.4(CUBN):c.8902G>C (p.Glu2968Gln)	rs45569534	0.01626
NM_001081.4(CUBN):c.*305T>G	rs143326344	0.01612
NM_001081.4(CUBN):c.*781C>T	rs115080396	0.01607
NM_001081.4(CUBN):c.5924C>T (p.Pro1975Leu)	rs41289303	0.01542
NM_001081.4(CUBN):c.*93C>A	rs111644764	0.01367
NM_001081.4(CUBN):c.*151G>A	rs76742384	0.01235
NM_001081.4(CUBN):c.*45C>T	rs7085076	0.01027
NM_001081.4(CUBN):c.8741C>T (p.Ala2914Val)	rs45551835	0.01006
NM_001081.4(CUBN):c.4872C>T (p.Ile1624=)	rs114958584	0.00910
NM_001081.4(CUBN):c.6561G>A (p.Ser2187=)	rs11254278	0.00833
NM_001081.4(CUBN):c.6788T>G (p.Phe2263Cys)	rs2271460	0.00803
NM_001081.4(CUBN):c.10039G>A (p.Gly3347Arg)	rs146027947	0.00789
NM_001081.4(CUBN):c.2594G>A (p.Ser865Asn)	rs138083522	0.00756
NM_001081.4(CUBN):c.6924A>T (p.Ser2308=)	rs115303408	0.00727
NM_001081.4(CUBN):c.*872T>C	rs116825641	0.00690
NM_001081.4(CUBN):c.5098G>A (p.Asp1700Asn)	rs116114483	0.00681
NM_001081.4(CUBN):c.*737T>C	rs114039309	0.00648
NM_001081.4(CUBN):c.9491C>G (p.Ser3164Trp)	rs57163243	0.00641
NM_001081.4(CUBN):c.963C>T (p.Pro321=)	rs150309054	0.00617
NM_001698.3(AUH):c.77G>A (p.Cys26Tyr)	rs74484860	0.00593
NM_001081.4(CUBN):c.2445C>T (p.Val815=)	rs116350428	0.00561
NM_001081.4(CUBN):c.3752G>C (p.Ser1251Thr)	rs115048360	0.00561
NM_001081.4(CUBN):c.9340G>A (p.Gly3114Ser)	rs117035284	0.00531
NM_001081.4(CUBN):c.9986C>T (p.Ser3329Leu)	rs74431427	0.00513
NM_001698.3(AUH):c.182C>A (p.Pro61His)	rs181327211	0.00487
NM_001081.4(CUBN):c.1003G>A (p.Ala335Thr)	rs57335729	0.00406
NM_001081.4(CUBN):c.7868A>C (p.Glu2623Ala)	rs115449747	0.00403
NM_001698.3(AUH):c.927A>G (p.Glu309=)	rs78739693	0.00399
NM_001081.4(CUBN):c.3292G>T (p.Ala1098Ser)	rs146593010	0.00386
NM_001081.4(CUBN):c.6997A>G (p.Ile2333Val)	rs149507036	0.00349
NM_001698.3(AUH):c.*200A>G	rs113687423	0.00297
NM_001081.4(CUBN):c.7706-4T>C	rs374979108	0.00180
NM_001081.4(CUBN):c.910G>A (p.Glu304Lys)	rs78201384	0.00159
NM_001081.4(CUBN):c.6938A>T (p.Tyr2313Phe)	rs140806389	0.00150
NM_001081.4(CUBN):c.8139C>A (p.Thr2713=)	rs147742103	0.00043
NM_001081.4(CUBN):c.8671G>A (p.Val2891Ile)	rs150488625	0.00034
NM_001081.4(CUBN):c.8921C>T (p.Thr2974Met)	rs374477671	0.00003
NM_001081.4(CUBN):c.10656C>A (p.Asn3552Lys)	rs1801232
NM_001081.4(CUBN):c.10656C>T (p.Asn3552=)	rs1801232
NM_001081.4(CUBN):c.1911C>T (p.Leu637=)	rs41289311
NM_001081.4(CUBN):c.5305G>A (p.Val1769Ile)	rs74116778
NM_001081.4(CUBN):c.5911C>A (p.Pro1971Thr)	rs2356590
NM_001081.4(CUBN):c.7346T>C (p.Met2449Thr)	rs41301097

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