ClinVar Miner

List of variants reported as uncertain significance for 3-methylglutaconic aciduria by Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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NM_001081.3(CUBN):c.349C>A (p.Leu117Met)
NM_001081.3(CUBN):c.4964C>G (p.Pro1655Arg) rs532968940
NM_001081.3(CUBN):c.6225G>A (p.Ser2075=) rs75737363
NM_001081.3(CUBN):c.7797C>G (p.Cys2599Trp) rs138758085
NM_001081.3(CUBN):c.9053A>C (p.Tyr3018Ser) rs370778353
NM_001081.3(CUBN):c.9079G>A (p.Gly3027Arg) rs150202444
NM_001081.3(CUBN):c.9922T>C (p.Trp3308Arg) rs752843169

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