ClinVar Miner

List of variants reported as uncertain significance for 3-methylglutaconic aciduria type 1

Included ClinVar conditions (2):
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Total variants: 88
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HGVS dbSNP
NM_001081.3(CUBN):c.10351G>A (p.Asp3451Asn) rs145661638
NM_001081.3(CUBN):c.10471A>G (p.Ser3491Gly) rs1183879233
NM_001081.3(CUBN):c.10612G>A (p.Glu3538Lys)
NM_001081.3(CUBN):c.10764+1G>A rs374982220
NM_001081.3(CUBN):c.1558C>T (p.Arg520Trp) rs564637804
NM_001081.3(CUBN):c.1951C>G (p.Arg651Gly) rs182512508
NM_001081.3(CUBN):c.1999A>G (p.Thr667Ala)
NM_001081.3(CUBN):c.2306G>A (p.Arg769Gln)
NM_001081.3(CUBN):c.2810C>G (p.Thr937Arg)
NM_001081.3(CUBN):c.2822G>A (p.Gly941Glu)
NM_001081.3(CUBN):c.2929T>C (p.Phe977Leu)
NM_001081.3(CUBN):c.322A>G (p.Ser108Gly) rs1564526263
NM_001081.3(CUBN):c.3391A>G (p.Thr1131Ala)
NM_001081.3(CUBN):c.348+2T>C
NM_001081.3(CUBN):c.349C>A (p.Leu117Met)
NM_001081.3(CUBN):c.3604G>A (p.Ala1202Thr) rs141740096
NM_001081.3(CUBN):c.3646C>G (p.Pro1216Ala)
NM_001081.3(CUBN):c.3823C>T (p.Arg1275Trp)
NM_001081.3(CUBN):c.3896C>G (p.Pro1299Arg) rs752570169
NM_001081.3(CUBN):c.3932G>A (p.Arg1311Gln)
NM_001081.3(CUBN):c.4167C>T (p.Tyr1389=) rs150510291
NM_001081.3(CUBN):c.4837C>T (p.Arg1613Ter) rs769881615
NM_001081.3(CUBN):c.4964C>G (p.Pro1655Arg) rs532968940
NM_001081.3(CUBN):c.5189C>T (p.Thr1730Met) rs201958183
NM_001081.3(CUBN):c.5285T>G (p.Val1762Gly) rs149164899
NM_001081.3(CUBN):c.5302_5304del (p.Ile1768del) rs775161946
NM_001081.3(CUBN):c.536G>T (p.Gly179Val)
NM_001081.3(CUBN):c.5459A>G (p.Tyr1820Cys)
NM_001081.3(CUBN):c.5470G>A (p.Val1824Ile)
NM_001081.3(CUBN):c.5580T>A (p.His1860Gln) rs980358703
NM_001081.3(CUBN):c.5806_5807delinsAA (p.Ser1936Asn) rs1554796668
NM_001081.3(CUBN):c.5840C>A (p.Ser1947Tyr) rs147617753
NM_001081.3(CUBN):c.5909_5912TACC[1] (p.Thr1972fs) rs765301342
NM_001081.3(CUBN):c.6020C>T (p.Thr2007Met)
NM_001081.3(CUBN):c.6125-2A>G rs75386064
NM_001081.3(CUBN):c.6225G>A (p.Ser2075=) rs75737363
NM_001081.3(CUBN):c.6359G>A (p.Trp2120Ter) rs566060177
NM_001081.3(CUBN):c.6479A>G (p.Asp2160Gly) rs144704318
NM_001081.3(CUBN):c.6661G>A (p.Val2221Ile) rs143291127
NM_001081.3(CUBN):c.6728C>T (p.Pro2243Leu)
NM_001081.3(CUBN):c.6833A>G (p.Asn2278Ser)
NM_001081.3(CUBN):c.6847C>T (p.Arg2283Trp)
NM_001081.3(CUBN):c.7007G>A (p.Cys2336Tyr)
NM_001081.3(CUBN):c.704G>C (p.Arg235Pro)
NM_001081.3(CUBN):c.7316C>G (p.Ser2439Ter) rs1564421451
NM_001081.3(CUBN):c.7331G>A (p.Arg2444Gln)
NM_001081.3(CUBN):c.7390A>C (p.Thr2464Pro)
NM_001081.3(CUBN):c.7403A>G (p.Tyr2468Cys)
NM_001081.3(CUBN):c.7797C>G (p.Cys2599Trp) rs138758085
NM_001081.3(CUBN):c.7861dup (p.Tyr2621fs) rs1564415858
NM_001081.3(CUBN):c.8071G>A (p.Gly2691Arg)
NM_001081.3(CUBN):c.8203G>T (p.Asp2735Tyr) rs149802222
NM_001081.3(CUBN):c.8278A>G (p.Ile2760Val)
NM_001081.3(CUBN):c.8399C>T (p.Thr2800Ile) rs141737312
NM_001081.3(CUBN):c.8578T>G (p.Cys2860Gly)
NM_001081.3(CUBN):c.8680C>G (p.Pro2894Ala)
NM_001081.3(CUBN):c.8711C>T (p.Ser2904Phe)
NM_001081.3(CUBN):c.8943C>T (p.Gly2981=) rs767131065
NM_001081.3(CUBN):c.9053A>C (p.Tyr3018Ser) rs370778353
NM_001081.3(CUBN):c.9061G>A (p.Glu3021Lys) rs41289299
NM_001081.3(CUBN):c.9079G>A (p.Gly3027Arg) rs150202444
NM_001081.3(CUBN):c.9166G>A (p.Ala3056Thr)
NM_001081.3(CUBN):c.9524C>A (p.Ser3175Ter) rs368697251
NM_001081.3(CUBN):c.9555T>G (p.Cys3185Trp)
NM_001081.3(CUBN):c.9922T>C (p.Trp3308Arg) rs752843169
NM_001698.2(AUH):c.*218_*219del rs1057515675
NM_001698.2(AUH):c.*259_*262del rs377176126
NM_001698.2(AUH):c.*29G>A rs200499826
NM_001698.2(AUH):c.*432C>T rs746233646
NM_001698.2(AUH):c.-30C>G rs1057515677
NM_001698.2(AUH):c.182C>A (p.Pro61His) rs181327211
NM_001698.2(AUH):c.211A>C (p.Met71Leu) rs756127206
NM_001698.2(AUH):c.304T>A (p.Ser102Thr) rs1554721818
NM_001698.2(AUH):c.381A>G (p.Ile127Met) rs146227896
NM_001698.2(AUH):c.44T>A (p.Leu15Gln) rs757419657
NM_001698.2(AUH):c.598+10A>C rs186203318
NM_001698.2(AUH):c.678C>T (p.Arg226=) rs143768042
NM_001698.2(AUH):c.713T>C (p.Phe238Ser)
NM_001698.2(AUH):c.719C>T (p.Ala240Val) rs769894315
NM_001698.2(AUH):c.730G>A (p.Asp244Asn) rs202182817
NM_001698.2(AUH):c.791G>A (p.Gly264Glu) rs376821113
NM_001698.2(AUH):c.84G>T (p.Ala28=) rs1057515676
NM_001698.2(AUH):c.942+4dup rs1554688047
NM_001698.2(AUH):c.951A>T (p.Pro317=) rs530710210
NM_001698.2(AUH):c.991A>T (p.Lys331Ter) rs387906757
NM_030943.3(AMN):c.1343_1348dup (p.Gly448_Ala449dup) rs36040113
NM_030943.3(AMN):c.400C>G (p.Arg134Gly) rs758317090
NM_030943.3(AMN):c.989C>A (p.Ala330Glu)

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