List of variants reported as pathogenic for galactosemia by Mendelics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_138801.3(GALM):c.424G>A (p.Gly142Arg)	rs114440198	0.00194
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)	rs75391579	0.00192
NM_000155.4(GALT):c.997C>G (p.Arg333Gly)	rs111033800	0.00002
NM_000155.4(GALT):c.100T>A (p.Tyr34Asn)	rs111033836
NM_000155.4(GALT):c.134C>A (p.Ser45Ter)	rs111033652
NM_000155.4(GALT):c.142C>A (p.Arg48Ser)	rs886042088
NM_000155.4(GALT):c.776G>A (p.Arg259Gln)	rs886042070

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.