ClinVar Miner

List of variants reported as likely benign for classic organic aciduria by Nilou-Genome Lab

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_000255.4(MMUT):c.1629C>T (p.Ser543=) rs150642856
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe) rs61749895
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln) rs147474255
NM_001370658.1(BTD):c.1041C>T (p.Gly347=) rs142421934
NM_001370658.1(BTD):c.201C>T (p.Asn67=) rs147057169
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg) rs34885143
NM_020166.5(MCCC1):c.231G>A (p.Ala77=) rs144230304
NM_172250.3(MMAA):c.630A>G (p.Pro210=) rs374347679

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