ClinVar Miner

List of variants reported as pathogenic for classic organic aciduria by Mendelics

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
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HGVS dbSNP
NM_000019.4(ACAT1):c.286C>T (p.Gln96Ter) rs1233969418
NM_000191.3(HMGCL):c.505_506del (p.Ser169fs) rs764264834
NM_000255.4(MMUT):c.1022dup (p.Asn341fs) rs752898811
NM_000255.4(MMUT):c.1196_1197del (p.Val399fs) rs1227030642
NM_000255.4(MMUT):c.1531C>T (p.Arg511Ter) rs761525156
NM_000282.4(PCCA):c.1118T>A (p.Met373Lys) rs121964958
NM_000282.4(PCCA):c.1994dup (p.Met666fs) rs1323994245
NM_000282.4(PCCA):c.843del (p.Asn281fs) rs1555400381
NM_000532.5(PCCB):c.1091-8_1091-3del rs1249235758
NM_000532.5(PCCB):c.1207C>T (p.Gln403Ter) rs768935968
NM_000532.5(PCCB):c.1223del (p.Ile408fs) rs758309460
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp) rs121964959
NM_000532.5(PCCB):c.502G>A (p.Glu168Lys) rs121964960
NM_000532.5(PCCB):c.517_518del (p.Leu173fs) rs755776820
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu) rs374722096
NM_001258392.3(CLPB):c.934C>T (p.Arg312Ter) rs185461628
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685
NM_001370658.1(BTD):c.1395C>G (p.His465Gln) rs201604102
NM_001370658.1(BTD):c.1465C>T (p.Pro489Ser) rs1344607767
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu) rs146136265
NM_001370658.1(BTD):c.203del (p.Gln68fs) rs1575013953
NM_001370658.1(BTD):c.281G>T (p.Gly94Val) rs375712490
NM_001370658.1(BTD):c.40_41del (p.Gly14fs) rs765906887
NM_001370658.1(BTD):c.44_45del (p.Cys15fs) rs750965140
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139
NM_001370658.1(BTD):c.798del (p.Ala267fs) rs1575029897
NM_002225.5(IVD):c.1009C>G (p.Arg337Gly) rs776608445
NM_002225.5(IVD):c.1206del (p.Ile402fs) rs1595797766
NM_002225.5(IVD):c.1231C>T (p.Arg411Trp) rs1237032588
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser) rs200895671

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