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: 19
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HGVS dbSNP
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_000411.8(HLCS):c.2010-1G>A rs1158898827
NM_000411.8(HLCS):c.782del (p.Gly261fs) rs771944310
NM_000528.4(MAN2B1):c.729_730insTT (p.Ser244fs) rs1568307275
NM_001081.3(CUBN):c.10285dup (p.Gln3429fs) rs754704005
NM_001081.3(CUBN):c.1951C>G (p.Arg651Gly) rs182512508
NM_001081.3(CUBN):c.5302_5304del (p.Ile1768del) rs775161946
NM_001081.3(CUBN):c.5428C>T (p.Arg1810Ter)
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.516_518TGT[1] (p.Val174del) rs1566936030
NM_015506.2(MMACHC):c.482G>A rs121918243
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241
NM_030943.3(AMN):c.1343_1348dup (p.Gly448_Ala449dup) rs36040113

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