List of variants studied for classic organic aciduria by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)	rs398124292	0.00093
NM_002225.5(IVD):c.932C>T (p.Ala311Val)	rs28940889	0.00077
NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile)	rs58639322	0.00060
NM_001370658.1(BTD):c.68A>G (p.His23Arg)	rs146011150	0.00042
NM_005050.4(ABCD4):c.1465G>A (p.Asp489Asn)	rs139901585	0.00022
NM_014362.4(HIBCH):c.226G>A (p.Glu76Lys)	rs778434126	0.00002
NM_002225.5(IVD):c.149G>A (p.Arg50His)	rs2229311	0.00001
NM_000255.4(MMUT):c.1160C>T (p.Thr387Ile)
NM_000282.4(PCCA):c.1209+3A>G	rs1467680142
NM_001609.4(ACADSB):c.1228+2T>C	rs1850655600
NM_005334.3(HCFC1):c.1030C>T (p.Arg344Cys)	rs2065417308
NM_005334.3(HCFC1):c.4983_4988del (p.Val1662_Thr1663del)	rs1275942023
NM_014362.4(HIBCH):c.1128dup (p.Lys377Ter)	rs863225062
NM_015506.3(MMACHC):c.545G>A (p.Cys182Tyr)	rs372010149
NM_015506.3(MMACHC):c.658_660del (p.Lys220del)	rs398124296
NM_022132.5(MCCC2):c.1216+2T>A	rs1554138265
NM_022132.5(MCCC2):c.176G>A (p.Arg59Gln)
NM_022132.5(MCCC2):c.913G>T (p.Glu305Ter)	rs1746873504

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