ClinVar Miner

List of variants reported as likely pathogenic for classic organic aciduria by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000282.4(PCCA):c.1284+1G>A rs752761437
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile) rs587783005
NM_001609.3(ACADSB):c.303+1G>A rs147936696
NM_014384.2(ACAD8):c.1129G>A (p.Gly377Ser) rs121908419
NM_014384.2(ACAD8):c.958G>A (p.Ala320Thr) rs200620279
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260
NM_022132.5(MCCC2):c.1423G>A (p.Gly475Arg) rs148773718

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