ClinVar Miner

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

Included ClinVar conditions (2):
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Total variants: 20
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HGVS dbSNP
NM_001698.2(AUH):c.*218_*219delAG rs1057515675
NM_001698.2(AUH):c.*259_*262delTTTA 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

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