ClinVar Miner

List of variants reported as likely benign for 3-methylglutaconic aciduria type 1 by Invitae

Included ClinVar conditions (2):
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Total variants: 7
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HGVS dbSNP
NM_001081.3(CUBN):c.2594G>A (p.Ser865Asn) rs138083522
NM_001081.3(CUBN):c.4206C>T (p.Phe1402=) rs563089365
NM_001081.3(CUBN):c.6142C>G (p.Gln2048Glu) rs146995189
NM_001081.3(CUBN):c.7107G>A (p.Gly2369=) rs145537365
NM_001698.2(AUH):c.657G>A (p.Gly219=) rs141110052
NM_001698.2(AUH):c.807G>A (p.Arg269=) rs145208407
NM_030943.3(AMN):c.735C>T (p.Pro245=) rs546245909

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