ClinVar Miner

List of variants reported as benign for classic organic aciduria by Mendelics

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311
NM_000532.5(PCCB):c.1490C>T (p.Ala497Val) rs142403318
NM_005050.4(ABCD4):c.184T>C (p.Leu62=) rs2301345
NM_020166.5(MCCC1):c.1391A>C (p.His464Pro) rs2270968
NM_020166.5(MCCC1):c.273+53A>C rs3732604
NM_052845.4(MMAB):c.716T>A (p.Met239Lys) rs9593

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