ClinVar Miner

List of variants reported as uncertain significance for classic organic aciduria by SingHealth Duke-NUS Institute of Precision Medicine

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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NM_000255.4(MMUT):c.915_920del (p.Leu305_Ser306del) rs1561957516
NM_001352514.2(HLCS):c.2451-1G>A rs1158898827
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_002225.5(IVD):c.457-2A>G rs771914739
NM_002225.5(IVD):c.516TGT[1] (p.Val174del) rs1566936030

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