ClinVar Miner

List of variants reported as pathogenic for classic organic aciduria by Laboratory of Metabolic Disorders,Peking University First Hospital

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_000282.4(PCCA):c.131delinsATT (p.Cys44fs) rs1594090133
NM_000282.4(PCCA):c.1330dup (p.Tyr444fs) rs1595236063
NM_000282.4(PCCA):c.1920del (p.Arg641fs) rs1594099731
NM_000282.4(PCCA):c.2T>A (p.Met1Lys) rs372093520
NM_000282.4(PCCA):c.305del (p.His102fs) rs1594413545
NM_000282.4(PCCA):c.334_335del (p.Val112fs) rs1594413897
NM_000282.4(PCCA):c.43G>T (p.Gly15Ter) rs1593996636
NM_000282.4(PCCA):c.734C>G (p.Ser245Ter) rs1594992191
NM_000282.4(PCCA):c.923dup (p.Leu308fs) rs573607437
NM_000532.5(PCCB):c.1220del (p.Gly407fs) rs1576360488
NM_000532.5(PCCB):c.839del (p.Leu280fs) rs1576337935
NM_000532.5(PCCB):c.968TTG[1] (p.Val324del) rs1353971489

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