List of variants studied for classic organic aciduria by SingHealth Duke-NUS Institute of Precision Medicine

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)	rs13078881	0.03225
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln)	rs121918243	0.00007
NM_000255.4(MMUT):c.1677-1G>A	rs754369323	0.00003
NM_001352514.2(HLCS):c.2451-1G>A	rs1158898827	0.00001
NM_001370658.1(BTD):c.577del (p.His193fs)	rs780874850	0.00001
NM_001370658.1(BTD):c.697C>T (p.Pro233Ser)	rs397514383	0.00001
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)	rs121918241	0.00001
NM_000019.4(ACAT1):c.1043del (p.Ala348fs)	rs1565297769
NM_000255.4(MMUT):c.1148dup (p.Ser384fs)	rs771021560
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_002225.5(IVD):c.457-2A>G	rs771914739
NM_002225.5(IVD):c.516TGT[1] (p.Val174del)	rs1566936030

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