ClinVar Miner

List of variants reported as pathogenic for classic organic aciduria by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter) rs763494292
NM_000255.4(MMUT):c.1399C>T (p.Arg467Ter) rs774159791
NM_000255.4(MMUT):c.682C>T (p.Arg228Ter) rs200596762
NM_000282.4(PCCA):c.923dup (p.Leu308fs) rs573607437
NM_000411.8(HLCS):c.782del (p.Gly261fs) rs771944310
NM_000532.5(PCCB):c.1606A>G (p.Asn536Asp) rs202247823
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.451G>A (p.Ala151Thr) rs13073139
NM_001609.3(ACADSB):c.443C>T (p.Thr148Ile) rs58639322
NM_002225.3(IVD):c.941C>T (p.Ala314Val) rs28940889
NM_018368.4(LMBRD1):c.1056del (p.Asn353fs) rs749272546
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser) rs119103213
NM_032601.4(MCEE):c.139C>T (p.Arg47Ter) rs111033538
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp) rs28941784

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