ClinVar Miner

List of variants studied 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: 14
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NM_000019.4(ACAT1):c.1043del (p.Ala348fs) rs1565297769
NM_000255.4(MMUT):c.1148dup (p.Ser384fs) rs771021560
NM_000255.4(MMUT):c.1677-1G>A rs754369323
NM_000255.4(MMUT):c.915_920del (p.Leu305_Ser306del) rs1561957516
NM_000528.4(MAN2B1):c.729_730insTT (p.Ser244fs) rs1568307275
NM_001352514.2(HLCS):c.1223del (p.Gly408fs) rs771944310
NM_001352514.2(HLCS):c.2451-1G>A rs1158898827
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.577del (p.His193fs) rs780874850
NM_001370658.1(BTD):c.697C>T (p.Pro233Ser) rs397514383
NM_002225.5(IVD):c.457-2A>G rs771914739
NM_002225.5(IVD):c.516TGT[1] (p.Val174del) rs1566936030
NM_015506.2(MMACHC):c.482G>A rs121918243
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241

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