List of variants studied for disorder of vitamin and non-protein cofactor absorption and transport by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

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

Total variants: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)	rs398124292	0.00093
NM_080669.6(SLC46A1):c.329G>A (p.Ser110Asn)	rs201076728	0.00020
NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter)	rs370596113	0.00006
NM_025243.4(SLC19A3):c.68G>T (p.Gly23Val)	rs121917882	0.00002
NM_005142.3(CBLIF):c.183_186del (p.Met61fs)	rs765896727
NM_005142.3(CBLIF):c.370+1G>C
NM_005334.3(HCFC1):c.2376C>G (p.Ile792Met)
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser)	rs200895671
NM_015702.3(MMADHC):c.136G>C (p.Ala46Pro)	rs749521854
NM_172250.3(MMAA):c.397C>T (p.Gln133Ter)	rs754545360

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.