ClinVar Miner

List of variants studied for classic organic aciduria by Pathology and Clinical Laboratory Medicine,King Fahad Medical City

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln) rs121964997
NM_000255.4(MMUT):c.2080C>T (p.Arg694Trp) rs777758903
NM_000255.4(MMUT):c.2200C>T (p.Gln734Ter) rs879253852
NM_000255.4(MMUT):c.278G>A (p.Arg93His) rs121918251
NM_000255.4(MMUT):c.329A>G (p.Tyr110Cys) rs796052005
NM_000255.4(MMUT):c.810_811delinsA (p.Ala271fs)
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp) rs796052019
NM_015702.3(MMADHC):c.702dup (p.Gly235fs)
NM_032861.4(SERAC1):c.202C>T (p.Arg68Ter) rs529232938
NM_032861.4(SERAC1):c.308_311del (p.Arg103fs)
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter) rs387907236

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