ClinVar Miner

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

Included ClinVar conditions (2):
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Total variants: 64
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HGVS dbSNP
NM_001081.3(CUBN):c.10285dup (p.Gln3429fs) rs754704005
NM_001081.3(CUBN):c.1230+1G>A rs386833766
NM_001081.3(CUBN):c.1436C>G (p.Ser479Ter) rs386833767
NM_001081.3(CUBN):c.1526del (p.Gly509fs) rs386833768
NM_001081.3(CUBN):c.1530G>A (p.Lys510=) rs386833769
NM_001081.3(CUBN):c.1838del (p.Gly613fs) rs386833770
NM_001081.3(CUBN):c.1865del (p.Thr622fs) rs386833771
NM_001081.3(CUBN):c.1951C>T (p.Arg651Ter) rs182512508
NM_001081.3(CUBN):c.2068A>G (p.Ile690Val) rs386833772
NM_001081.3(CUBN):c.2486C>T (p.Ser829Leu) rs386833773
NM_001081.3(CUBN):c.250C>T (p.Gln84Ter) rs386833774
NM_001081.3(CUBN):c.2515_2533del (p.Glu839fs) rs386833775
NM_001081.3(CUBN):c.252+1G>A rs386833776
NM_001081.3(CUBN):c.2614_2615del (p.Asp872fs) rs386833777
NM_001081.3(CUBN):c.2673C>A (p.Cys891Ter) rs386833778
NM_001081.3(CUBN):c.2949C>A (p.Tyr983Ter) rs386833779
NM_001081.3(CUBN):c.3056C>G (p.Ser1019Ter) rs386833780
NM_001081.3(CUBN):c.3096del (p.Ala1031_Tyr1032insTer) rs386833781
NM_001081.3(CUBN):c.3330-439C>G rs386833782
NM_001081.3(CUBN):c.3473G>A (p.Trp1158Ter) rs1564492988
NM_001081.3(CUBN):c.348+2T>C
NM_001081.3(CUBN):c.3577T>G (p.Trp1193Gly) rs386833783
NM_001081.3(CUBN):c.3749C>T (p.Ser1250Phe) rs386833784
NM_001081.3(CUBN):c.3890C>T (p.Pro1297Leu) rs121434430
NM_001081.3(CUBN):c.3999C>A (p.Cys1333Ter) rs386833785
NM_001081.3(CUBN):c.4115C>G (p.Thr1372Arg) rs386833786
NM_001081.3(CUBN):c.4168G>A (p.Gly1390Ser) rs386833787
NM_001081.3(CUBN):c.434G>A (p.Gly145Glu) rs386833788
NM_001081.3(CUBN):c.4460_4464delGATTC
NM_001081.3(CUBN):c.489G>A (p.Lys163=) rs386833789
NM_001081.3(CUBN):c.4921del (p.Tyr1641fs) rs1564443979
NM_001081.3(CUBN):c.5428C>T (p.Arg1810Ter)
NM_001081.3(CUBN):c.5511dup (p.Gly1838fs) rs1168074679
NM_001081.3(CUBN):c.5549-2A>C rs1564435513
NM_001081.3(CUBN):c.5909_5912TACC[1] (p.Thr1972fs) rs765301342
NM_001081.3(CUBN):c.6125-2A>G rs75386064
NM_001081.3(CUBN):c.673T>A (p.Cys225Ser) rs386833790
NM_001081.3(CUBN):c.889C>T (p.Gln297Ter) rs386833791
NM_001081.3(CUBN):c.9949C>T (p.Gln3317Ter) rs1564379463
NM_001698.2(AUH):c.373C>T (p.Arg125Trp) rs200030276
NM_001698.2(AUH):c.599-2A>G
NM_030943.3(AMN):c.1006+16_1006+30del rs386834160
NM_030943.3(AMN):c.1006+34_1006+48del rs386834161
NM_030943.3(AMN):c.1006+36_1006+50del rs386834162
NM_030943.3(AMN):c.1014_1021del (p.Leu339fs) rs386834163
NM_030943.3(AMN):c.1170-6C>T rs386834164
NM_030943.3(AMN):c.1253dup (p.Leu419fs) rs386834165
NM_030943.3(AMN):c.1257+10C>T rs386834166
NM_030943.3(AMN):c.1312_1313CA[1] (p.His438fs) rs386834167
NM_030943.3(AMN):c.14del (p.Gly5fs) rs386834168
NM_030943.3(AMN):c.208-1G>C rs386834169
NM_030943.3(AMN):c.208-2A>G rs386834170
NM_030943.3(AMN):c.295delG rs386834171
NM_030943.3(AMN):c.43+1G>T rs386834172
NM_030943.3(AMN):c.468dup (p.Gly157fs) rs386834173
NM_030943.3(AMN):c.514-34G>A rs144077391
NM_030943.3(AMN):c.663G>A (p.Trp221Ter) rs386834174
NM_030943.3(AMN):c.683_730del (p.Gln228_Leu243del) rs386834175
NM_030943.3(AMN):c.701G>T (p.Cys234Phe) rs386834176
NM_030943.3(AMN):c.742C>T (p.Gln248Ter) rs386834177
NM_030943.3(AMN):c.760+1G>A rs1555381485
NM_030943.3(AMN):c.761G>A (p.Gly254Glu) rs386834178
NM_030943.3(AMN):c.844-1G>C
NM_030943.3(AMN):c.974_977dup (p.Ala327fs) rs386834179

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