ClinVar Miner

List of variants studied for classic organic aciduria by Mayo Clinic 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_001243279.3(ACSF3):c.1406G>A (p.Arg469Gln) rs144681140
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp) rs138680796
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn) 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

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