ClinVar Miner

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

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_000255.4(MMUT):c.1614C>T (p.Thr538=) rs766999822
NM_000282.4(PCCA):c.2040+9TG[5] rs751014655
NM_000282.4(PCCA):c.300+20G>T rs371217257
NM_000282.4(PCCA):c.432A>G (p.Gly144=) rs768756825
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_000532.5(PCCB):c.45C>T (p.Ser15=) rs754664563
NM_000532.5(PCCB):c.555G>A (p.Thr185=) rs543691110
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser) rs35034250
NM_001370658.1(BTD):c.1224C>T (p.Tyr408=) rs35145938
NM_001370658.1(BTD):c.152T>C (p.Leu51Pro) rs397514333
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361
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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