ClinVar Miner

List of variants studied for classic organic aciduria by Elsea Laboratory,Baylor College of Medicine

Included ClinVar conditions (39):
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ClinVar version:
Total variants: 27
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HGVS dbSNP
NM_000255.4(MMUT):c.1218del (p.Asn407fs)
NM_000255.4(MMUT):c.1531C>T (p.Arg511Ter) rs761525156
NM_000255.4(MMUT):c.188C>T (p.Thr63Ile)
NM_000255.4(MMUT):c.566A>G (p.Asn189Ser) rs200908035
NM_000532.5(PCCB):c.180G>A (p.Lys60=) rs140636870
NM_001370658.1(BTD):c.-148C>T rs774964227
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg) rs34885143
NM_001609.4(ACADSB):c.1128+3A>G rs760423996
NM_001698.3(AUH):c.381A>G rs146227896
NM_001698.3(AUH):c.419G>A (p.Gly140Asp)
NM_004813.4(PEX16):c.710T>G (p.Leu237Arg)
NM_005050.4(ABCD4):c.1794G>C (p.Trp598Cys)
NM_013247.5(HTRA2):c.739C>T (p.Arg247Cys)
NM_014362.4(HIBCH):c.353T>C (p.Phe118Ser)
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys) rs121918329
NM_014362.4(HIBCH):c.428C>A (p.Thr143Lys)
NM_014362.4(HIBCH):c.632G>T (p.Gly211Val)
NM_014362.4(HIBCH):c.763C>T (p.Arg255Ter)
NM_014362.4(HIBCH):c.790C>T (p.His264Tyr)
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp) rs200483477
NM_015506.3(MMACHC):c.19G>A (p.Glu7Lys)
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter) rs121918242
NM_020166.5(MCCC1):c.1705A>T (p.Asn569Tyr)
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260
NM_032861.4(SERAC1):c.1126C>T (p.Gln376Ter) rs199632531

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