List of variants studied for classic galactosemia by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)	rs75391579	0.00192
NM_000155.4(GALT):c.404C>T (p.Ser135Leu)	rs111033690	0.00094
NM_000155.4(GALT):c.512T>C (p.Phe171Ser)	rs111033715	0.00004
NM_000155.4(GALT):c.200G>A (p.Arg67His)	rs758430398	0.00003
NM_000155.4(GALT):c.602G>A (p.Arg201His)	rs111033735	0.00003
NM_000155.4(GALT):c.691C>T (p.Arg231Cys)	rs111033749	0.00001
NM_000155.4(GALT):c.127_130del (p.Leu43fs)
NM_000155.4(GALT):c.253-1G>A
NM_000155.4(GALT):c.377+26A>G
NM_000155.4(GALT):c.650T>C (p.Leu217Pro)	rs111033741
NM_000155.4(GALT):c.820+2T>C

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.