List of variants reported as likely benign for classic organic aciduria by Counsyl

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser)	rs35034250	0.01555
NM_001370658.1(BTD):c.820A>G (p.Ile274Val)	rs35976361	0.01187
NM_001370658.1(BTD):c.1224C>T (p.Tyr408=)	rs35145938	0.01185
NM_000282.4(PCCA):c.300+20G>T	rs371217257	0.00012
NM_000532.5(PCCB):c.555G>A (p.Thr185=)	rs543691110	0.00010
NM_000255.4(MMUT):c.1614C>T (p.Thr538=)	rs766999822	0.00003
NM_000532.5(PCCB):c.45C>T (p.Ser15=)	rs754664563	0.00002
NM_000282.4(PCCA):c.432A>G (p.Gly144=)	rs768756825	0.00001
NM_000282.4(PCCA):c.2040+9TG[5]	rs751014655
NM_000532.5(PCCB):c.1452A>G (p.Ala484=)	rs781556055
NM_000532.5(PCCB):c.373-1271del	rs1553774493
NM_000532.5(PCCB):c.373-1281G>A	rs1553774486
NM_000532.5(PCCB):c.373-1297_373-1295del	rs1553774476
NM_001370658.1(BTD):c.152T>C (p.Leu51Pro)	rs397514333
NM_002225.5(IVD):c.234+17G>A	rs568900608
NM_015506.3(MMACHC):c.603T>C (p.Arg201=)	rs398124294
NM_052845.4(MMAB):c.584+14_584+33del	rs1555274482

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