List of variants reported as likely pathogenic for 3-methylglutaconic aciduria type 1

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Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_001081.4(CUBN):c.6821+2T>C	rs150901286	0.00083
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu)	rs202153130	0.00007
NM_001081.4(CUBN):c.7095G>A (p.Trp2365Ter)	rs374538208	0.00007
NM_001698.3(AUH):c.656-2_656-1del	rs757748207	0.00004
NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter)	rs374417889	0.00003
NM_001081.4(CUBN):c.10612G>T (p.Glu3538Ter)	rs756614749	0.00002
NM_001081.4(CUBN):c.8755C>T (p.Arg2919Ter)	rs370038232	0.00002
NM_001081.4(CUBN):c.1506G>A (p.Trp502Ter)	rs145818316	0.00001
NM_001081.4(CUBN):c.3096del (p.Ala1031_Tyr1032insTer)	rs386833781	0.00001
NM_001081.4(CUBN):c.703C>T (p.Arg235Ter)	rs1461982823	0.00001
NM_001698.3(AUH):c.656-2del	rs780964098	0.00001
NC_000009.11:g.(?_94118145)_(94118457_?)del
NM_001081.4(CUBN):c.10462C>T (p.Arg3488Ter)	rs201426128
NM_001081.4(CUBN):c.2792-1G>T	rs2131845016
NM_001081.4(CUBN):c.4165del (p.Tyr1389fs)	rs774493547
NM_001081.4(CUBN):c.4351-1G>C
NM_001081.4(CUBN):c.4689_4690delinsAT (p.Cys1563_Ile1564delinsTer)	rs2131697094
NM_001081.4(CUBN):c.4973del (p.Asn1658fs)	rs1588511533
NM_001081.4(CUBN):c.5318G>A (p.Gly1773Asp)
NM_001698.3(AUH):c.373C>T (p.Arg125Trp)	rs200030276
NM_001698.3(AUH):c.556G>T (p.Gly186Cys)	rs1040881767
NM_001698.3(AUH):c.584A>C (p.Asp195Ala)	rs1827482942
NM_001698.3(AUH):c.599-2A>G	rs1587799880

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