ClinVar Miner

List of variants studied for classic organic aciduria by Centre for Mendelian Genomics,University Medical Centre Ljubljana

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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NM_000019.4(ACAT1):c.575A>G (p.His192Arg)
NM_000019.4(ACAT1):c.890C>T (p.Thr297Met) rs886041122
NM_000191.3(HMGCL):c.914_915del (p.Phe305fs) rs786205431
NM_000532.5(PCCB):c.654+3A>C rs199886085
NM_000532.5(PCCB):c.769G>A (p.Ala257Thr)
NM_001017989.3(OPA3):c.343C>T (p.Arg115Ter) rs762247018
NM_001243279.3(ACSF3):c.491G>A (p.Gly164Glu)
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) rs104893688
NM_001609.4(ACADSB):c.303+1G>A rs147936696
NM_002225.5(IVD):c.164A>T (p.Lys55Met) rs145999491
NM_172250.3(MMAA):c.593_596del (p.Thr198fs) rs796051993

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