List of variants studied for classic organic aciduria by New York Genome Center

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)	rs13078881	0.03225
NM_001081.4(CUBN):c.10002G>C (p.Gln3334His)	rs147330179	0.00104
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)	rs398124292	0.00093
NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile)	rs58639322	0.00060
NM_001081.4(CUBN):c.8084G>A (p.Gly2695Asp)	rs142667203	0.00018
NM_002225.5(IVD):c.550+1G>A	rs377147994	0.00007
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln)	rs121918243	0.00007
NM_005334.3(HCFC1):c.3730C>T (p.Arg1244Cys)	rs782155408	0.00004
NM_001258392.3(CLPB):c.1308C>G (p.Ile436Met)	rs140355579	0.00001
NM_005334.3(HCFC1):c.503+6G>A	rs1048267564	0.00001
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs)	rs397507445
NM_000532.5(PCCB):c.990dup (p.Glu331Ter)	rs786200983
NM_001081.4(CUBN):c.3605C>T (p.Ala1202Val)	rs1835097031
NM_001081.4(CUBN):c.6254A>G (p.Asn2085Ser)	rs569527072
NM_001370658.1(BTD):c.1399del (p.Trp467fs)	rs397514423
NM_005334.3(HCFC1):c.3257G>A (p.Gly1086Asp)	rs2065362050

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