ClinVar Miner

List of variants reported as likely pathogenic by Laboratory of Metabolic Disorders, Peking University First Hospital

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000532.5(PCCB):c.410A>G (p.His137Arg) rs1391142709 0.00001
NM_000532.5(PCCB):c.733G>A (p.Gly245Ser) rs756414710 0.00001
NM_001080.3(ALDH5A1):c.515G>A (p.Arg172His) rs773814880 0.00001
NM_001122955.4(BSCL2):c.737_738insCCG (p.Glu246delinsAspArg) rs747297291 0.00001
NM_000282.4(PCCA):c.1066G>C (p.Val356Leu) rs1595202534
NM_000282.4(PCCA):c.1075_1077del (p.Pro359del) rs1595202607
NM_000282.4(PCCA):c.2077A>T (p.Met693Leu) rs1594160545
NM_000282.4(PCCA):c.2159_2162dup (p.Asp722fs) rs1594175453
NM_000282.4(PCCA):c.524G>A (p.Gly175Asp) rs1421021643
NM_000282.4(PCCA):c.683G>T (p.Gly228Val) rs1594961620
NM_000282.4(PCCA):c.803G>T (p.Arg268Leu) rs368047060
NM_000282.4(PCCA):c.869G>A (p.Cys290Tyr) rs1595032920
NM_000282.4(PCCA):c.872C>T (p.Ser291Leu) rs1595033018
NM_000429.3(MAT1A):c.623A>C (p.Gln208Pro)
NM_000532.5(PCCB):c.1234G>A (p.Gly412Ser) rs1576360539
NM_000532.5(PCCB):c.1339C>T (p.Leu447Phe) rs1576360934
NM_000532.5(PCCB):c.1373C>T (p.Ala458Val) rs1576360976
NM_000532.5(PCCB):c.365T>C (p.Phe122Ser) rs1576402832
NM_000532.5(PCCB):c.703A>C (p.Thr235Pro) rs1021206121
NM_000532.5(PCCB):c.800C>A (p.Ala267Asp) rs774249198
NM_001080.3(ALDH5A1):c.1274T>C (p.Leu425Pro)
NM_001080.3(ALDH5A1):c.427del (p.Thr143fs)
NM_001080.3(ALDH5A1):c.755G>T (p.Gly252Val)
NM_001875.5(CPS1):c.149T>C (p.Leu50Pro)
NM_001875.5(CPS1):c.2895+2T>C
NM_001875.5(CPS1):c.3793C>T (p.Pro1265Ser)

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