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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln)	rs121964997	0.00004
NM_000255.4(MMUT):c.278G>A (p.Arg93His)	rs121918251	0.00004
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp)	rs119103229	0.00003
NM_032861.4(SERAC1):c.202C>T (p.Arg68Ter)	rs529232938	0.00002
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter)	rs387907236	0.00002
NM_000255.4(MMUT):c.2080C>T (p.Arg694Trp)	rs777758903	0.00001
NM_000255.4(MMUT):c.1445-1G>C	rs1226722287
NM_000255.4(MMUT):c.2200C>T (p.Gln734Ter)	rs879253852
NM_000255.4(MMUT):c.329A>G (p.Tyr110Cys)	rs796052005
NM_000255.4(MMUT):c.810_811delinsA (p.Ala271fs)	rs1767682543
NM_000282.4(PCCA):c.2119-2A>G	rs867315913
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp)	rs796052019
NM_015702.3(MMADHC):c.702dup (p.Gly235fs)	rs1682617973
NM_032861.4(SERAC1):c.308_311del (p.Arg103fs)	rs1785136807

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.