ClinVar Miner

List of variants in gene combination AUH, LOC130002059 reported as uncertain significance for 3-methylglutaconic aciduria type 1

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001698.3(AUH):c.20C>T (p.Ala7Val) rs863223911 0.00009
NM_001698.3(AUH):c.158G>T (p.Gly53Val) rs747819278 0.00005
NM_001698.3(AUH):c.25C>G (p.Pro9Ala) rs1461159226 0.00001
NM_001698.3(AUH):c.56G>T (p.Gly19Val) rs1832891431 0.00001
NM_001698.3(AUH):c.84G>T (p.Ala28=) rs1057515676 0.00001
NM_001698.2(AUH):c.-30C>G rs1057515677
NM_001698.3(AUH):c.107T>C (p.Leu36Pro)
NM_001698.3(AUH):c.10G>A (p.Ala4Thr)
NM_001698.3(AUH):c.112G>T (p.Gly38Cys)
NM_001698.3(AUH):c.156G>C (p.Gln52His)
NM_001698.3(AUH):c.163G>C (p.Val55Leu)
NM_001698.3(AUH):c.197G>C (p.Gly66Ala)
NM_001698.3(AUH):c.197G>T (p.Gly66Val) rs1323577454
NM_001698.3(AUH):c.1A>G (p.Met1Val)
NM_001698.3(AUH):c.204C>G (p.Ser68Arg)
NM_001698.3(AUH):c.20C>A (p.Ala7Glu)
NM_001698.3(AUH):c.211A>C (p.Met71Leu) rs756127206
NM_001698.3(AUH):c.215_217dup (p.Lys72_Thr73insLys)
NM_001698.3(AUH):c.221A>C (p.Glu74Ala)
NM_001698.3(AUH):c.232C>T (p.Arg78Trp)
NM_001698.3(AUH):c.23C>T (p.Ala8Val)
NM_001698.3(AUH):c.31G>A (p.Ala11Thr)
NM_001698.3(AUH):c.40T>C (p.Ser14Pro) rs1482564472
NM_001698.3(AUH):c.44T>A (p.Leu15Gln) rs757419657
NM_001698.3(AUH):c.47A>G (p.His16Arg)

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