ClinVar Miner

List of variants studied for classic organic aciduria by Myriad Women's Health, Inc.

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 47
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HGVS dbSNP
NM_000191.3(HMGCL):c.275T>A (p.Leu92Ter)
NM_000191.3(HMGCL):c.331A>T (p.Lys111Ter)
NM_000191.3(HMGCL):c.594C>G (p.Tyr198Ter)
NM_000191.3(HMGCL):c.714T>G (p.Tyr238Ter)
NM_000191.3(HMGCL):c.718C>T (p.Gln240Ter)
NM_000255.4(MMUT):c.1198A>T (p.Lys400Ter)
NM_000255.4(MMUT):c.1287C>A (p.Tyr429Ter)
NM_000255.4(MMUT):c.1348G>T (p.Glu450Ter)
NM_000255.4(MMUT):c.1369A>T (p.Lys457Ter)
NM_000255.4(MMUT):c.1564A>T (p.Lys522Ter)
NM_000255.4(MMUT):c.1761T>A (p.Tyr587Ter)
NM_000255.4(MMUT):c.1870C>T (p.Gln624Ter)
NM_000255.4(MMUT):c.397G>T (p.Gly133Ter)
NM_000255.4(MMUT):c.401T>A (p.Leu134Ter)
NM_000255.4(MMUT):c.706G>T (p.Glu236Ter)
NM_000255.4(MMUT):c.787G>T (p.Gly263Ter)
NM_000255.4(MMUT):c.842T>A (p.Leu281Ter)
NM_000255.4(MMUT):c.934G>T (p.Gly312Ter)
NM_000255.4(MMUT):c.987G>A (p.Trp329Ter)
NM_000255.4(MMUT):c.995T>G (p.Leu332Ter)
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs) rs397507445
NM_001352514.2(HLCS):c.1132C>T (p.Gln378Ter)
NM_001352514.2(HLCS):c.1250T>A (p.Leu417Ter)
NM_001352514.2(HLCS):c.1434C>A (p.Cys478Ter)
NM_001352514.2(HLCS):c.1642C>T (p.Gln548Ter)
NM_001352514.2(HLCS):c.1719C>A (p.Tyr573Ter)
NM_001352514.2(HLCS):c.1771G>T (p.Glu591Ter)
NM_001352514.2(HLCS):c.1781C>G (p.Ser594Ter)
NM_001352514.2(HLCS):c.1957A>T (p.Lys653Ter)
NM_001352514.2(HLCS):c.2044G>T (p.Gly682Ter)
NM_001352514.2(HLCS):c.2201C>G (p.Ser734Ter)
NM_001352514.2(HLCS):c.542C>A (p.Ser181Ter)
NM_001352514.2(HLCS):c.840C>A (p.Tyr280Ter)
NM_001352514.2(HLCS):c.886G>T (p.Glu296Ter)
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) rs80338686
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684
NM_001370658.1(BTD):c.410G>A (p.Arg137His) rs146015592
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly) rs28934601
NM_002225.5(IVD):c.932C>T (p.Ala311Val) rs28940889
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266
NM_025136.4(OPA3):c.143-1G>C rs80356523
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp) rs28941784
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851
NM_172250.3(MMAA):c.552T>A (p.Cys184Ter)

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