ClinVar Miner

List of variants studied for classic organic aciduria by Mayo Clinic Genetic Testing Laboratories,Mayo Clinic

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_000411.8(HLCS):c.1711G>A (p.Asp571Asn) rs119103228
NM_001698.2(AUH):c.211A>C (p.Met71Leu) rs756127206
NM_001698.2(AUH):c.44T>A (p.Leu15Gln) rs757419657
NM_005334.3(HCFC1):c.4315A>C (p.Asn1439His) rs782138046
NM_174917.5(ACSF3):c.1406G>A (p.Arg469Gln) rs144681140
NM_174917.5(ACSF3):c.1411C>T (p.Arg471Trp) rs138680796

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