ClinVar Miner

List of variants studied for classic organic aciduria by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_000282.4(PCCA):c.1209+3A>G rs1467680142
NM_001370658.1(BTD):c.68A>G (p.His23Arg) rs146011150
NM_001609.3(ACADSB):c.443C>T (p.Thr148Ile) rs58639322
NM_001609.4(ACADSB):c.1228+2T>C
NM_002225.5(IVD):c.149G>A (p.Arg50His) rs2229311
NM_002225.5(IVD):c.932C>T (p.Ala311Val) rs28940889
NM_005050.4(ABCD4):c.1465G>A (p.Asp489Asn) rs139901585
NM_005334.3(HCFC1):c.1030C>T (p.Arg344Cys)
NM_005334.3(HCFC1):c.4983_4988del (p.Val1662_Thr1663del) rs1275942023
NM_014362.4(HIBCH):c.1128dup (p.Lys377Ter) rs863225062
NM_014362.4(HIBCH):c.226G>A (p.Glu76Lys)
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_022132.5(MCCC2):c.1216+2T>A
NM_022132.5(MCCC2):c.913G>T (p.Glu305Ter)

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